{"id":"https://openalex.org/W2018255257","doi":"https://doi.org/10.1172/jci115250","title":"Sp alpha V/41: a common spectrin polymorphism at the alpha IV-alpha V domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha-spectrin variants located in trans.","display_name":"Sp alpha V/41: a common spectrin polymorphism at the alpha IV-alpha V domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha-spectrin variants located in trans.","publication_year":1991,"publication_date":"1991-06-01","ids":{"openalex":"https://openalex.org/W2018255257","doi":"https://doi.org/10.1172/jci115250","mag":"2018255257","pmid":"https://pubmed.ncbi.nlm.nih.gov/2040699","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/296976"},"language":"en","primary_location":{"id":"doi:10.1172/jci115250","doi":"https://doi.org/10.1172/jci115250","is_oa":true,"landing_page_url":"https://doi.org/10.1172/jci115250","pdf_url":"http://www.jci.org/articles/view/115250/files/pdf","source":{"id":"https://openalex.org/S114430552","display_name":"Journal of Clinical Investigation","issn_l":"0021-9738","issn":["0021-9738","1558-8238"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320279","host_organization_name":"American Society for Clinical Investigation","host_organization_lineage":["https://openalex.org/P4310320279"],"host_organization_lineage_names":["American Society for Clinical Investigation"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Investigation","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"http://www.jci.org/articles/view/115250/files/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5031740637","display_name":"Nicole Alloisio","orcid":"https://orcid.org/0000-0001-5030-1993","observed_orcids":["https://orcid.org/0000-0001-5030-1993"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"N Alloisio","raw_affiliation_strings":["Centre National de la Recherche Scientifique URA 1171, Facult\u00e9 de M\u00e9decine Grange-Blanche, Lyon, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre National de la Recherche Scientifique URA 1171, Facult\u00e9 de M\u00e9decine Grange-Blanche, Lyon, France","institution_ids":["https://openalex.org/I1294671590"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073579078","display_name":"Laurette Morl\u00e9","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I100532134","display_name":"Lyon 1 Universit\u00e9","ror":"https://ror.org/029brtt94","country_code":"FR","type":"education","lineage":["https://openalex.org/I100532134","https://openalex.org/I203339264"]},{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"L Morl\u00e9","raw_affiliation_strings":["Centre National de la Recherche Scientifique URA 11 71, Faculte de Medecine Grange-Blanche, 69373 Lyon Cedex 08, France;","tCentre National de la Recherche Scientifique UMR 106, Universite Claude-Bernard Lyon-I, 69622 Villeurbanne Cedex, France; \u00a7Service"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre National de la Recherche Scientifique URA 11 71, Faculte de Medecine Grange-Blanche, 69373 Lyon Cedex 08, France;","institution_ids":["https://openalex.org/I1294671590"]},{"raw_affiliation_string":"tCentre National de la Recherche Scientifique UMR 106, Universite Claude-Bernard Lyon-I, 69622 Villeurbanne Cedex, France; \u00a7Service","institution_ids":["https://openalex.org/I100532134","https://openalex.org/I1294671590"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113920464","display_name":"J Mar\u00e9chal","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I100532134","display_name":"Lyon 1 Universit\u00e9","ror":"https://ror.org/029brtt94","country_code":"FR","type":"education","lineage":["https://openalex.org/I100532134","https://openalex.org/I203339264"]},{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"J Mar\u00e9chal","raw_affiliation_strings":["Centre National de la Recherche Scientifique URA 11 71, Faculte de Medecine Grange-Blanche, 69373 Lyon Cedex 08, France;","tCentre National de la Recherche Scientifique UMR 106, Universite Claude-Bernard Lyon-I, 69622 Villeurbanne Cedex, France; \u00a7Service"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre National de la Recherche Scientifique URA 11 71, Faculte de Medecine Grange-Blanche, 69373 Lyon Cedex 08, France;","institution_ids":["https://openalex.org/I1294671590"]},{"raw_affiliation_string":"tCentre National de la Recherche Scientifique UMR 106, Universite Claude-Bernard Lyon-I, 69622 Villeurbanne Cedex, France; \u00a7Service","institution_ids":["https://openalex.org/I100532134","https://openalex.org/I1294671590"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023597827","display_name":"Anne\u2010Fran\u00e7oise Roux","orcid":"https://orcid.org/0000-0001-5914-2335","observed_orcids":["https://orcid.org/0000-0001-5914-2335"]},"institutions":[{"id":"https://openalex.org/I100532134","display_name":"Lyon 1 Universit\u00e9","ror":"https://ror.org/029brtt94","country_code":"FR","type":"education","lineage":["https://openalex.org/I100532134","https://openalex.org/I203339264"]},{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A F Roux","raw_affiliation_strings":["Centre National de la Recherche Scientifique URA 11 71, Faculte de Medecine Grange-Blanche, 69373 Lyon Cedex 08, France;","tCentre National de la Recherche Scientifique UMR 106, Universite Claude-Bernard Lyon-I, 69622 Villeurbanne Cedex, France; \u00a7Service"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre National de la Recherche Scientifique URA 11 71, Faculte de Medecine Grange-Blanche, 69373 Lyon Cedex 08, France;","institution_ids":["https://openalex.org/I1294671590"]},{"raw_affiliation_string":"tCentre National de la Recherche Scientifique UMR 106, Universite Claude-Bernard Lyon-I, 69622 Villeurbanne Cedex, France; \u00a7Service","institution_ids":["https://openalex.org/I100532134","https://openalex.org/I1294671590"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111748944","display_name":"M. T. Ducluzeau","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I100532134","display_name":"Lyon 1 Universit\u00e9","ror":"https://ror.org/029brtt94","country_code":"FR","type":"education","lineage":["https://openalex.org/I100532134","https://openalex.org/I203339264"]},{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"M T Ducluzeau","raw_affiliation_strings":["Centre National de la Recherche Scientifique URA 11 71, Faculte de Medecine Grange-Blanche, 69373 Lyon Cedex 08, France;","tCentre National de la Recherche Scientifique UMR 106, Universite Claude-Bernard Lyon-I, 69622 Villeurbanne Cedex, France; \u00a7Service"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre National de la Recherche Scientifique URA 11 71, Faculte de Medecine Grange-Blanche, 69373 Lyon Cedex 08, France;","institution_ids":["https://openalex.org/I1294671590"]},{"raw_affiliation_string":"tCentre National de la Recherche Scientifique UMR 106, Universite Claude-Bernard Lyon-I, 69622 Villeurbanne Cedex, France; \u00a7Service","institution_ids":["https://openalex.org/I100532134","https://openalex.org/I1294671590"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029012063","display_name":"Djamel Guetarni","orcid":"https://orcid.org/0009-0001-2095-4069","observed_orcids":["https://orcid.org/0009-0001-2095-4069"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210155467","display_name":"H\u00f4pital Mustapha Pacha","ror":"https://ror.org/056yje678","country_code":"DZ","type":"healthcare","lineage":["https://openalex.org/I4210155467"]}],"countries":["DZ","FR"],"is_corresponding":false,"raw_author_name":"D Guetarni","raw_affiliation_strings":["'Hematologie, Hopital Mustapha, Algiers, Algeria; ItLaboratoire de Biochimie,","Institut National de Sante de l'Enfance de Tunis, Tunis, Tunisia;","CNRS URA 1 171, Facult6 de Medecine Grange-Blanche, 69373 Lyon Cedex 08, France","Institut National de la Sante et de la Recherche Melicale U299, Le Kremlin-Bicetre, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"'Hematologie, Hopital Mustapha, Algiers, Algeria; ItLaboratoire de Biochimie,","institution_ids":["https://openalex.org/I4210155467"]},{"raw_affiliation_string":"Institut National de Sante de l'Enfance de Tunis, Tunis, Tunisia;","institution_ids":[]},{"raw_affiliation_string":"CNRS URA 1 171, Facult6 de Medecine Grange-Blanche, 69373 Lyon Cedex 08, France","institution_ids":["https://openalex.org/I1294671590"]},{"raw_affiliation_string":"Institut National de la Sante et de la Recherche Melicale U299, Le Kremlin-Bicetre, France","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046666461","display_name":"Brigitte Pothier","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I100532134","display_name":"Lyon 1 Universit\u00e9","ror":"https://ror.org/029brtt94","country_code":"FR","type":"education","lineage":["https://openalex.org/I100532134","https://openalex.org/I203339264"]},{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"B Pothier","raw_affiliation_strings":["Centre National de la Recherche Scientifique URA 11 71, Faculte de Medecine Grange-Blanche, 69373 Lyon Cedex 08, France;","tCentre National de la Recherche Scientifique UMR 106, Universite Claude-Bernard Lyon-I, 69622 Villeurbanne Cedex, France; \u00a7Service"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre National de la Recherche Scientifique URA 11 71, Faculte de Medecine Grange-Blanche, 69373 Lyon Cedex 08, France;","institution_ids":["https://openalex.org/I1294671590"]},{"raw_affiliation_string":"tCentre National de la Recherche Scientifique UMR 106, Universite Claude-Bernard Lyon-I, 69622 Villeurbanne Cedex, France; \u00a7Service","institution_ids":["https://openalex.org/I100532134","https://openalex.org/I1294671590"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038243273","display_name":"Faouzi Baklouti","orcid":"https://orcid.org/0000-0002-2830-292X","observed_orcids":["https://orcid.org/0000-0002-2830-292X"]},"institutions":[{"id":"https://openalex.org/I100532134","display_name":"Lyon 1 Universit\u00e9","ror":"https://ror.org/029brtt94","country_code":"FR","type":"education","lineage":["https://openalex.org/I100532134","https://openalex.org/I203339264"]},{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"F Baklouti","raw_affiliation_strings":["Centre National de la Recherche Scientifique URA 11 71, Faculte de Medecine Grange-Blanche, 69373 Lyon Cedex 08, France;","tCentre National de la Recherche Scientifique UMR 106, Universite Claude-Bernard Lyon-I, 69622 Villeurbanne Cedex, France; \u00a7Service"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre National de la Recherche Scientifique URA 11 71, Faculte de Medecine Grange-Blanche, 69373 Lyon Cedex 08, France;","institution_ids":["https://openalex.org/I1294671590"]},{"raw_affiliation_string":"tCentre National de la Recherche Scientifique UMR 106, Universite Claude-Bernard Lyon-I, 69622 Villeurbanne Cedex, France; \u00a7Service","institution_ids":["https://openalex.org/I100532134","https://openalex.org/I1294671590"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113715047","display_name":"Abi Ghanem","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210155467","display_name":"H\u00f4pital Mustapha Pacha","ror":"https://ror.org/056yje678","country_code":"DZ","type":"healthcare","lineage":["https://openalex.org/I4210155467"]}],"countries":["DZ","FR"],"is_corresponding":false,"raw_author_name":"A Ghanem","raw_affiliation_strings":["Hopital Mustapha , Algiers , Algeria; ItLaboratoire de Biochimie ,","'Hematologie, Hopital Mustapha, Algiers, Algeria; ItLaboratoire de Biochimie,","Institut National de Sante de l'Enfance de Tunis, Tunis, Tunisia;","CNRS URA 1 171, Facult6 de Medecine Grange-Blanche, 69373 Lyon Cedex 08, France","Institut National de la Sante et de la Recherche Melicale U299, Le Kremlin-Bicetre, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hopital Mustapha , Algiers , Algeria; ItLaboratoire de Biochimie ,","institution_ids":["https://openalex.org/I4210155467"]},{"raw_affiliation_string":"'Hematologie, Hopital Mustapha, Algiers, Algeria; ItLaboratoire de Biochimie,","institution_ids":["https://openalex.org/I4210155467"]},{"raw_affiliation_string":"Institut National de Sante de l'Enfance de Tunis, Tunis, Tunisia;","institution_ids":[]},{"raw_affiliation_string":"CNRS URA 1 171, Facult6 de Medecine Grange-Blanche, 69373 Lyon Cedex 08, France","institution_ids":["https://openalex.org/I1294671590"]},{"raw_affiliation_string":"Institut National de la Sante et de la Recherche Melicale U299, Le Kremlin-Bicetre, France","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5045083696","display_name":"Radhia Kastally","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210124633","display_name":"Habib hospital Thameur","ror":"https://ror.org/0393ghj09","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210124633"]},{"id":"https://openalex.org/I4210155467","display_name":"H\u00f4pital Mustapha Pacha","ror":"https://ror.org/056yje678","country_code":"DZ","type":"healthcare","lineage":["https://openalex.org/I4210155467"]}],"countries":["DZ","TN"],"is_corresponding":false,"raw_author_name":"R Kastally","raw_affiliation_strings":["Hopital Mustapha , Algiers , Algeria; ItLaboratoire de Biochimie ,","Service d'Hematologie Biologique, H6pital Habib Thameur, Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hopital Mustapha , Algiers , Algeria; ItLaboratoire de Biochimie ,","institution_ids":["https://openalex.org/I4210155467"]},{"raw_affiliation_string":"Service d'Hematologie Biologique, H6pital Habib Thameur, Tunis, Tunisia","institution_ids":["https://openalex.org/I4210124633"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":5,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5200,"currency":"USD","value_usd":5200},"apc_paid":null,"fwci":3.3438,"has_fulltext":true,"cited_by_count":65,"citation_normalized_percentile":{"value":0.93262863,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":87,"max":96},"biblio":{"volume":"87","issue":"6","first_page":"2169","last_page":"2177"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12286","display_name":"Erythrocyte Function and Pathophysiology","score":0.9800000190734863,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12286","display_name":"Erythrocyte Function and Pathophysiology","score":0.9800000190734863,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.010400000028312206,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11721","display_name":"Blood properties and coagulation","score":0.002899999963119626,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/hereditary-elliptocytosis","display_name":"hereditary elliptocytosis","score":0.9129999876022339},{"id":"https://openalex.org/keywords/alpha-spectrin","display_name":"alpha-spectrin","score":0.7350000143051147},{"id":"https://openalex.org/keywords/hemoglobinopathies","display_name":"hemoglobinopathies","score":0.47200000286102295}],"concepts":[{"id":"https://openalex.org/C50244902","wikidata":"https://www.wikidata.org/wiki/Q420870","display_name":"Spectrin","level":4,"score":0.9690777063369751},{"id":"https://openalex.org/C64943373","wikidata":"https://www.wikidata.org/wiki/Q2651003","display_name":"Alpha (finance)","level":4,"score":0.6445131301879883},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5262985229492188},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5084423422813416},{"id":"https://openalex.org/C152204938","wikidata":"https://www.wikidata.org/wiki/Q4735158","display_name":"Alpha chain","level":3,"score":0.4918215274810791},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4721153974533081},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.24202170968055725},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.18654891848564148},{"id":"https://openalex.org/C1491633281","wikidata":"https://www.wikidata.org/wiki/Q7868","display_name":"Cell","level":2,"score":0.08137518167495728},{"id":"https://openalex.org/C142669718","wikidata":"https://www.wikidata.org/wiki/Q154626","display_name":"Cytoskeleton","level":3,"score":0.05096030235290527},{"id":"https://openalex.org/C2775944032","wikidata":"https://www.wikidata.org/wiki/Q22907659","display_name":"Patient satisfaction","level":2,"score":0.0},{"id":"https://openalex.org/C159110408","wikidata":"https://www.wikidata.org/wiki/Q121176","display_name":"Nursing","level":1,"score":0.0},{"id":"https://openalex.org/C49453240","wikidata":"https://www.wikidata.org/wiki/Q1592163","display_name":"Construct validity","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D004612","descriptor_name":"Elliptocytosis, Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008970","descriptor_name":"Molecular Weight","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011110","descriptor_name":"Polymorphism, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013049","descriptor_name":"Spectrin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D013049","descriptor_name":"Spectrin","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D015180","descriptor_name":"Electrophoresis, Gel, Two-Dimensional","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1172/jci115250","doi":"https://doi.org/10.1172/jci115250","is_oa":true,"landing_page_url":"https://doi.org/10.1172/jci115250","pdf_url":"http://www.jci.org/articles/view/115250/files/pdf","source":{"id":"https://openalex.org/S114430552","display_name":"Journal of Clinical Investigation","issn_l":"0021-9738","issn":["0021-9738","1558-8238"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320279","host_organization_name":"American Society for Clinical Investigation","host_organization_lineage":["https://openalex.org/P4310320279"],"host_organization_lineage_names":["American Society for Clinical Investigation"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Investigation","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:296976","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/296976","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"J Clin Invest","raw_type":"Text"},{"id":"pmid:2040699","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2040699","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of clinical investigation","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1172/jci115250","doi":"https://doi.org/10.1172/jci115250","is_oa":true,"landing_page_url":"https://doi.org/10.1172/jci115250","pdf_url":"http://www.jci.org/articles/view/115250/files/pdf","source":{"id":"https://openalex.org/S114430552","display_name":"Journal of Clinical Investigation","issn_l":"0021-9738","issn":["0021-9738","1558-8238"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320279","host_organization_name":"American Society for Clinical Investigation","host_organization_lineage":["https://openalex.org/P4310320279"],"host_organization_lineage_names":["American Society for Clinical Investigation"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Investigation","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.8560000061988831,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G1841768544","display_name":null,"funder_award_id":"URA 1171","funder_id":"https://openalex.org/F4320322892","funder_display_name":"Centre National de la Recherche Scientifique"}],"funders":[{"id":"https://openalex.org/F4320322892","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2018255257.pdf","grobid_xml":"https://content.openalex.org/works/W2018255257.grobid-xml"},"referenced_works_count":26,"referenced_works":["https://openalex.org/W244544457","https://openalex.org/W306920163","https://openalex.org/W1528238804","https://openalex.org/W1964334816","https://openalex.org/W1971961144","https://openalex.org/W1991619600","https://openalex.org/W2001617001","https://openalex.org/W2007001974","https://openalex.org/W2040207324","https://openalex.org/W2048663085","https://openalex.org/W2056583052","https://openalex.org/W2060871255","https://openalex.org/W2068082719","https://openalex.org/W2073324942","https://openalex.org/W2124908368","https://openalex.org/W2150313140","https://openalex.org/W2279649183","https://openalex.org/W2346561167","https://openalex.org/W2372561032","https://openalex.org/W2395917550","https://openalex.org/W2411834874","https://openalex.org/W2416138080","https://openalex.org/W2417545573","https://openalex.org/W2419645143","https://openalex.org/W2470769469","https://openalex.org/W4247220313"],"related_works":["https://openalex.org/W2001432797","https://openalex.org/W2113708630","https://openalex.org/W2410778929","https://openalex.org/W2124908368","https://openalex.org/W256334488","https://openalex.org/W2022832767","https://openalex.org/W1964334816","https://openalex.org/W306920163","https://openalex.org/W2091603976","https://openalex.org/W2016002806"],"abstract_inverted_index":{"Spectrin":[0],"alpha-chain":[1],"mutants":[2],"associated":[3],"with":[4],"hereditary":[5],"elliptocytosis":[6,23,118,205],"are":[7],"highly":[8],"variable":[9],"in":[10,37,77,90,134,144,176,199],"their":[11],"level":[12],"of":[13,22,56,59,83,108,117,157,165,171],"expression.":[14],"It":[15,73,182],"has":[16,74],"been":[17,75],"assumed":[18],"that":[19,184],"the":[20,28,34,40,54,69,100,106,109,114,135,158,166,185,200],"degree":[21],"can":[24],"be":[25,207],"increased":[26,153],"when":[27],"spectrin":[29,60,172,178],"alpha":[30,35,61,70,101,122,159,186],"chain,":[31],"encoded":[32],"by":[33,175],"gene":[36],"trans":[38],"to":[39,67,155,196],"variant,":[41],"is":[42,65,189],"expressed":[43],"at":[44],"a":[45,210],"low":[46],"level.":[47],"We":[48],"now":[49],"provide":[50],"strong":[51],"evidence":[52],"for":[53,192],"existence":[55],"low-level":[57],"expression":[58],"chains.":[62],"This":[63],"condition":[64],"referred":[66],"as":[68,209],"V/41":[71,102,123,187],"polymorphism.":[72],"observed":[76],"15":[78],"different":[79],"families":[80],"or":[81,137],"individuals":[82],"French,":[84],"North":[85],"African,":[86],"and":[87,140],"African":[88],"ancestry":[89],"which":[91],"seven":[92],"distinct":[93],"elliptocytogenic":[94,194],"alpha-spectrin":[95,193],"variants":[96,195],"were":[97],"co-inherited.":[98],"Whenever":[99],"polymorphism":[103,124,188],"was":[104,119,125,141,151,173],"present,":[105],"severity":[107],"biochemical,":[110],"morphological,":[111],"and,":[112],"sometimes,":[113],"clinical":[115],"phenotype":[116],"increased.":[120],"The":[121,147],"also":[126],"frequently":[127],"encountered":[128],"among":[129],"36":[130],"unrelated":[131],"control":[132],"subjects":[133],"heterozygous":[136,201],"homozygous":[138],"states,":[139],"entirely":[142],"asymptomatic":[143],"both":[145],"cases.":[146],"main":[148],"biochemical":[149],"feature":[150],"an":[152],"susceptibility":[154],"proteolysis":[156],"IV-alpha":[160],"V":[161],"domain":[162,170],"junction.":[163],"Alteration":[164],"facing":[167],"beta":[168],"IV":[169],"demonstrated":[174],"vitro":[177],"dimer":[179],"reconstitution":[180],"experiments.":[181],"appears":[183],"often":[190],"required":[191],"become":[197],"manifest":[198],"state.":[202],"Thus,":[203],"alpha-spectrin-related":[204],"may":[206],"viewed":[208],"bifactorial":[211],"condition.":[212]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2015,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
