{"id":"https://openalex.org/W2092393472","doi":"https://doi.org/10.1111/j.1365-2141.1990.tb04357.x","title":"A haemolytic syndrome associated with the complete absence of red cell membrane protein 4.2 in two Tunisian siblings","display_name":"A haemolytic syndrome associated with the complete absence of red cell membrane protein 4.2 in two Tunisian siblings","publication_year":1990,"publication_date":"1990-07-01","ids":{"openalex":"https://openalex.org/W2092393472","doi":"https://doi.org/10.1111/j.1365-2141.1990.tb04357.x","mag":"2092393472","pmid":"https://pubmed.ncbi.nlm.nih.gov/2386772"},"language":"en","primary_location":{"id":"doi:10.1111/j.1365-2141.1990.tb04357.x","doi":"https://doi.org/10.1111/j.1365-2141.1990.tb04357.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1365-2141.1990.tb04357.x","pdf_url":null,"source":{"id":"https://openalex.org/S153015021","display_name":"British Journal of Haematology","issn_l":"0007-1048","issn":["0007-1048","1365-2141"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"British Journal of Haematology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5113715047","display_name":"Abi Ghanem","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Ghanem","raw_affiliation_strings":["Service de Biochimie Clinique, H\u00f4pital d'Enfants, Tunis, France","Service de Biochimie Clinique, H\u00f4pital d'Enfants, Tunis, Tunisie, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Biochimie Clinique, H\u00f4pital d'Enfants, Tunis, France","institution_ids":[]},{"raw_affiliation_string":"Service de Biochimie Clinique, H\u00f4pital d'Enfants, Tunis, Tunisie, France","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046666461","display_name":"Brigitte Pothier","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"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"B. Pothier","raw_affiliation_strings":["CNRS URA 1171, Faculte\u0301 de Me\u0301decine Lyon Grange-Blanche, 69373 Lyon Cedex 08, France","CNRS URA 1171, Facult\u00e9 de M\u00e9decine Lyon Grange\u2010Blanche, 69373 Lyon Cedex 08, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CNRS URA 1171, Faculte\u0301 de Me\u0301decine Lyon Grange-Blanche, 69373 Lyon Cedex 08, France","institution_ids":["https://openalex.org/I1294671590"]},{"raw_affiliation_string":"CNRS URA 1171, Facult\u00e9 de M\u00e9decine Lyon Grange\u2010Blanche, 69373 Lyon Cedex 08, France","institution_ids":["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/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. Marechal","raw_affiliation_strings":["CNRS URA 1171, Faculte\u0301 de Me\u0301decine Lyon Grange-Blanche, 69373 Lyon Cedex 08, France","CNRS URA 1171, Facult\u00e9 de M\u00e9decine Lyon Grange\u2010Blanche, 69373 Lyon Cedex 08, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CNRS URA 1171, Faculte\u0301 de Me\u0301decine Lyon Grange-Blanche, 69373 Lyon Cedex 08, France","institution_ids":["https://openalex.org/I1294671590"]},{"raw_affiliation_string":"CNRS URA 1171, Facult\u00e9 de M\u00e9decine Lyon Grange\u2010Blanche, 69373 Lyon Cedex 08, France","institution_ids":["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/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":["CNRS URA 1171, Faculte\u0301 de Me\u0301decine Lyon Grange-Blanche, 69373 Lyon Cedex 08, France","CNRS URA 1171, Facult\u00e9 de M\u00e9decine Lyon Grange\u2010Blanche, 69373 Lyon Cedex 08, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CNRS URA 1171, Faculte\u0301 de Me\u0301decine Lyon Grange-Blanche, 69373 Lyon Cedex 08, France","institution_ids":["https://openalex.org/I1294671590"]},{"raw_affiliation_string":"CNRS URA 1171, Facult\u00e9 de M\u00e9decine Lyon Grange\u2010Blanche, 69373 Lyon Cedex 08, 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/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. Morle","raw_affiliation_strings":["CNRS URA 1171, Faculte\u0301 de Me\u0301decine Lyon Grange-Blanche, 69373 Lyon Cedex 08, France","CNRS URA 1171, Facult\u00e9 de M\u00e9decine Lyon Grange\u2010Blanche, 69373 Lyon Cedex 08, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CNRS URA 1171, Faculte\u0301 de Me\u0301decine Lyon Grange-Blanche, 69373 Lyon Cedex 08, France","institution_ids":["https://openalex.org/I1294671590"]},{"raw_affiliation_string":"CNRS URA 1171, Facult\u00e9 de M\u00e9decine Lyon Grange\u2010Blanche, 69373 Lyon Cedex 08, France","institution_ids":["https://openalex.org/I1294671590"]}]},{"author_position":"middle","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":["CNRS URA 1171, Faculte\u0301 de Me\u0301decine Lyon Grange-Blanche, 69373 Lyon Cedex 08, France","CNRS URA 1171, Facult\u00e9 de M\u00e9decine Lyon Grange\u2010Blanche, 69373 Lyon Cedex 08, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CNRS URA 1171, Faculte\u0301 de Me\u0301decine Lyon Grange-Blanche, 69373 Lyon Cedex 08, France","institution_ids":["https://openalex.org/I1294671590"]},{"raw_affiliation_string":"CNRS URA 1171, Facult\u00e9 de M\u00e9decine Lyon Grange\u2010Blanche, 69373 Lyon Cedex 08, France","institution_ids":["https://openalex.org/I1294671590"]}]},{"author_position":"middle","author":{"id":null,"display_name":"C. Feo","orcid":null,"observed_orcids":[]},"institutions":[{"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/I4210162942","display_name":"Bic\u00eatre Hospital","ror":"https://ror.org/05c9p1x46","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210162942","https://openalex.org/I4405259118"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C. Feo","raw_affiliation_strings":["INSERM U 299, Ho\u0302pital de Bice\u0302tre, 78 rue du Ge\u0301ne\u0301ral-Leclerc, 92275 le Kremlin-Bice\u0302tre, France","INSERM U 299, H\u00f4pital de Bic\u00eatre, 78 rue du G\u00e9n\u00e9ral\u2010Leclerc, 92275 le Kremlin\u2010Bic\u00eatre, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U 299, Ho\u0302pital de Bice\u0302tre, 78 rue du Ge\u0301ne\u0301ral-Leclerc, 92275 le Kremlin-Bice\u0302tre, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210162942"]},{"raw_affiliation_string":"INSERM U 299, H\u00f4pital de Bic\u00eatre, 78 rue du G\u00e9n\u00e9ral\u2010Leclerc, 92275 le Kremlin\u2010Bic\u00eatre, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210162942"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082984865","display_name":"A Ben Abdeladhim","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Ben Abdeladhim","raw_affiliation_strings":["Service d'He\u0301matologie Clinique (Pr. M. Boussen), Ho\u0302pital Aziz Othmana, Tunis, Tunisie","Service d'H\u00e9matologie Clinique (Pr. M. Boussen), H\u00f4pital Aziz Othmana, Tunis, Tunisie"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service d'He\u0301matologie Clinique (Pr. M. Boussen), Ho\u0302pital Aziz Othmana, Tunis, Tunisie","institution_ids":[]},{"raw_affiliation_string":"Service d'H\u00e9matologie Clinique (Pr. M. Boussen), H\u00f4pital Aziz Othmana, Tunis, Tunisie","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112537910","display_name":"S. Fattoum","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S. Fattoum","raw_affiliation_strings":["Service de Biochimie Clinique, Ho\u0302pital d'Enfants, Tunis, Tunisie, France","Service de Biochimie Clinique, H\u00f4pital d'Enfants, Tunis, Tunisie, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Biochimie Clinique, Ho\u0302pital d'Enfants, Tunis, Tunisie, France","institution_ids":[]},{"raw_affiliation_string":"Service de Biochimie Clinique, H\u00f4pital d'Enfants, Tunis, Tunisie, France","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5047145227","display_name":"Jean Delaunay","orcid":"https://orcid.org/0000-0002-6512-5483","observed_orcids":["https://orcid.org/0000-0002-6512-5483"]},"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":"J. Delaunay","raw_affiliation_strings":["CNRS URA 1171, Faculte\u0301 de Me\u0301decine Lyon Grange-Blanche, 69373 Lyon Cedex 08, France","CNRS URA 1171, Facult\u00e9 de M\u00e9decine Lyon Grange\u2010Blanche, 69373 Lyon Cedex 08, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CNRS URA 1171, Faculte\u0301 de Me\u0301decine Lyon Grange-Blanche, 69373 Lyon Cedex 08, France","institution_ids":["https://openalex.org/I1294671590"]},{"raw_affiliation_string":"CNRS URA 1171, Facult\u00e9 de M\u00e9decine Lyon Grange\u2010Blanche, 69373 Lyon Cedex 08, France","institution_ids":["https://openalex.org/I1294671590"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5046666461"],"corresponding_institution_ids":["https://openalex.org/I1294671590"],"apc_list":{"value":5190,"currency":"USD","value_usd":5190},"apc_paid":null,"fwci":2.7228,"has_fulltext":false,"cited_by_count":36,"citation_normalized_percentile":{"value":0.91140616,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"75","issue":"3","first_page":"414","last_page":"420"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12286","display_name":"Erythrocyte Function and Pathophysiology","score":0.9721999764442444,"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":0.9721999764442444,"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":0.016899999231100082,"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/T11660","display_name":"Blood groups and transfusion","score":0.004699999932199717,"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/erythrocyte-membrane","display_name":"erythrocyte membrane","score":0.7390000224113464},{"id":"https://openalex.org/keywords/ankyrin","display_name":"ankyrin","score":0.8960000276565552},{"id":"https://openalex.org/keywords/hemolytic-anemia","display_name":"hemolytic anemia","score":0.7429999709129333},{"id":"https://openalex.org/keywords/splenectomy","display_name":"splenectomy","score":0.824999988079071},{"id":"https://openalex.org/keywords/recessive-inheritance","display_name":"recessive inheritance","score":0.7670000195503235},{"id":"https://openalex.org/keywords/homozygosity","display_name":"homozygosity","score":0.7080000042915344},{"id":"https://openalex.org/keywords/first-cousins","display_name":"first cousins","score":0.5640000104904175},{"id":"https://openalex.org/keywords/siblings","display_name":"siblings","score":0.6470000147819519},{"id":"https://openalex.org/keywords/tunisian-patients","display_name":"Tunisian patients","score":0.6470000147819519}],"concepts":[{"id":"https://openalex.org/C2776952295","wikidata":"https://www.wikidata.org/wiki/Q541244","display_name":"Hereditary spherocytosis","level":2,"score":0.8923654556274414},{"id":"https://openalex.org/C50244902","wikidata":"https://www.wikidata.org/wiki/Q420870","display_name":"Spectrin","level":4,"score":0.5820618867874146},{"id":"https://openalex.org/C182800266","wikidata":"https://www.wikidata.org/wiki/Q414971","display_name":"Ankyrin","level":3,"score":0.5727771520614624},{"id":"https://openalex.org/C2779245863","wikidata":"https://www.wikidata.org/wiki/Q11181178","display_name":"Spherocytosis","level":4,"score":0.5475389361381531},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.514393150806427},{"id":"https://openalex.org/C144647389","wikidata":"https://www.wikidata.org/wiki/Q423042","display_name":"Membrane protein","level":3,"score":0.4722142815589905},{"id":"https://openalex.org/C2776309230","wikidata":"https://www.wikidata.org/wiki/Q580383","display_name":"Splenectomy","level":3,"score":0.4622684717178345},{"id":"https://openalex.org/C159654299","wikidata":"https://www.wikidata.org/wiki/Q79460","display_name":"Antibody","level":2,"score":0.45855897665023804},{"id":"https://openalex.org/C153471976","wikidata":"https://www.wikidata.org/wiki/Q2873354","display_name":"Heterozygote advantage","level":4,"score":0.4208413362503052},{"id":"https://openalex.org/C101660505","wikidata":"https://www.wikidata.org/wiki/Q898301","display_name":"Polyacrylamide gel electrophoresis","level":3,"score":0.41777801513671875},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.4176335036754608},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.41575872898101807},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.32073384523391724},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.2417829930782318},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.19834712147712708},{"id":"https://openalex.org/C1491633281","wikidata":"https://www.wikidata.org/wiki/Q7868","display_name":"Cell","level":2,"score":0.1787315309047699},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.08922964334487915},{"id":"https://openalex.org/C41625074","wikidata":"https://www.wikidata.org/wiki/Q176088","display_name":"Membrane","level":2,"score":0.08639967441558838},{"id":"https://openalex.org/C2780931953","wikidata":"https://www.wikidata.org/wiki/Q9371","display_name":"Spleen","level":2,"score":0.07914885878562927},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.0},{"id":"https://openalex.org/C142669718","wikidata":"https://www.wikidata.org/wiki/Q154626","display_name":"Cytoskeleton","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000745","descriptor_name":"Anemia, Hemolytic, Congenital","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D000745","descriptor_name":"Anemia, Hemolytic, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001798","descriptor_name":"Blood Proteins","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D003598","descriptor_name":"Cytoskeletal Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004910","descriptor_name":"Erythrocyte Membrane","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014416","descriptor_name":"Tunisia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1111/j.1365-2141.1990.tb04357.x","doi":"https://doi.org/10.1111/j.1365-2141.1990.tb04357.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1365-2141.1990.tb04357.x","pdf_url":null,"source":{"id":"https://openalex.org/S153015021","display_name":"British Journal of Haematology","issn_l":"0007-1048","issn":["0007-1048","1365-2141"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"British Journal of Haematology","raw_type":"journal-article"},{"id":"pmid:2386772","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2386772","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":"British journal of haematology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320322892","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":17,"referenced_works":["https://openalex.org/W1528238804","https://openalex.org/W1643253926","https://openalex.org/W1971060681","https://openalex.org/W1975376384","https://openalex.org/W1986909268","https://openalex.org/W1991099584","https://openalex.org/W1991915296","https://openalex.org/W2031422316","https://openalex.org/W2047841570","https://openalex.org/W2073879684","https://openalex.org/W2089469841","https://openalex.org/W2100837269","https://openalex.org/W2142492617","https://openalex.org/W2316633448","https://openalex.org/W2337581468","https://openalex.org/W2410441938","https://openalex.org/W2417545573"],"related_works":["https://openalex.org/W2046821905","https://openalex.org/W355552059","https://openalex.org/W2119550023","https://openalex.org/W2392905741","https://openalex.org/W27238957","https://openalex.org/W2123494226","https://openalex.org/W1611252433","https://openalex.org/W1978300015","https://openalex.org/W2146256470","https://openalex.org/W68041166"],"abstract_inverted_index":{"We":[0],"report":[1],"on":[2],"the":[3,98,111,118,130,177],"complete":[4],"absence":[5],"of":[6,72,81,106,173],"protein":[7,55,69,108,131,174],"4.2":[8,59,109,132,178],"in":[9,22,77],"two":[10,103],"Tunisian":[11],"siblings.":[12],"The":[13,83,102,151],"propositus":[14],"presented":[15,86,105],"with":[16,87],"a":[17,36,88,137,170],"haemolytic":[18,89,180],"anaemia":[19,90,181],"that":[20,127],"evolved":[21],"an":[23],"intermittent":[24],"fashion":[25],"until":[26],"she":[27,96],"was":[28],"cured":[29],"by":[30],"splenectomy.":[31],"Her":[32],"red":[33],"cells":[34],"had":[35,92,169],"normal":[37,42,171],"morphology,":[38],"as":[39,41,122,161,183],"well":[40],"deformability":[43],"upon":[44],"osmotic":[45],"gradient":[46],"ektacytometry.":[47],"SDS-polyacrylamide":[48],"gel":[49],"electrophoresis":[50],"failed":[51],"to":[52,67,114,142,145],"reveal":[53],"any":[54],"4.2.":[56,70,175],"Using":[57],"anti-protein":[58],"polyclonal":[60],"antibodies.":[61],"Western":[62],"blots":[63],"were":[64,163],"also":[65],"unable":[66],"detect":[68],"Preparation":[71],"inside":[73],"out":[74],"vesicles":[75],"resulted":[76],"no":[78],"detectable":[79],"loss":[80],"ankyrin.":[82],"propositus's":[84],"sister":[85],"but":[91],"not":[93,149],"undergone":[94],"splenectomy;":[95],"showed":[97],"same":[99],"biochemical":[100],"features.":[101],"cases":[104],"missing":[107],"are":[110,154],"first":[112,155],"ones":[113],"be":[115],"described":[116],"outside":[117],"Japanese":[119],"population.":[120],"Considered":[121],"homozygotes":[123],"for":[124],"some":[125],"defect":[126],"must":[128],"alter":[129],"gene":[133],"itself,":[134],"they":[135,168],"exemplify":[136],"unique":[138],"syndrome":[139],"pertaining":[140],"neither":[141],"elliptocytosis":[143],"nor":[144],"spherocytosis,":[146],"at":[147],"least":[148],"closely.":[150],"parents,":[152],"who":[153],"cousins":[156],"and":[157,165],"whom":[158],"we":[159],"regarded":[160],"heterozygotes,":[162],"clinically":[164],"morphologically":[166],"normal;":[167],"content":[172],"Therefore,":[176],"(-)":[179],"appears":[182],"entirely":[184],"recessive.":[185]},"counts_by_year":[{"year":2020,"cited_by_count":1},{"year":2017,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}