{"id":"https://openalex.org/W2019094071","doi":"https://doi.org/10.1172/jci117173","title":"A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds.","display_name":"A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds.","publication_year":1994,"publication_date":"1994-04-01","ids":{"openalex":"https://openalex.org/W2019094071","doi":"https://doi.org/10.1172/jci117173","mag":"2019094071","pmid":"https://pubmed.ncbi.nlm.nih.gov/8163685","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/294267"},"language":"en","primary_location":{"id":"doi:10.1172/jci117173","doi":"https://doi.org/10.1172/jci117173","is_oa":true,"landing_page_url":"https://doi.org/10.1172/jci117173","pdf_url":"http://www.jci.org/articles/view/117173/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"},"parent_works":[],"lineage":["https://openalex.org/W2019094071"],"child_works_count":0,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"http://www.jci.org/articles/view/117173/files/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5018295626","display_name":"Lawrence M. Nogee","orcid":"https://orcid.org/0000-0003-0540-8083","observed_orcids":["https://orcid.org/0000-0003-0540-8083"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"L M Nogee","raw_affiliation_strings":["Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027400015","display_name":"G\u00e9rard Garnier","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"G Garnier","raw_affiliation_strings":["Washington University \u2013 St Louis"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Washington University \u2013 St Louis","institution_ids":["https://openalex.org/I204465549"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038027788","display_name":"Harry C. Dietz","orcid":"https://orcid.org/0000-0002-6856-0165","observed_orcids":["https://orcid.org/0000-0002-6856-0165"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"H C Dietz","raw_affiliation_strings":["Department ofPediatrics, Johns Hopkins University School ofMedicine, Baltimore, Maryland 21287;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department ofPediatrics, Johns Hopkins University School ofMedicine, Baltimore, Maryland 21287;","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060883258","display_name":"Lori Singer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"L Singer","raw_affiliation_strings":["Department of Pediatrics , Washington University School ofMedicine , St. Louis , Missouri 63110 ; and","Washington University \u2013 St Louis"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics , Washington University School ofMedicine , St. Louis , Missouri 63110 ; and","institution_ids":["https://openalex.org/I204465549"]},{"raw_affiliation_string":"Washington University \u2013 St Louis","institution_ids":["https://openalex.org/I204465549"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002571021","display_name":"Anne M. Murphy","orcid":"https://orcid.org/0000-0001-9254-3202","observed_orcids":["https://orcid.org/0000-0001-9254-3202"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"A M Murphy","raw_affiliation_strings":["Department ofPediatrics, Johns Hopkins University School ofMedicine, Baltimore, Maryland 21287;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department ofPediatrics, Johns Hopkins University School ofMedicine, Baltimore, Maryland 21287;","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108492019","display_name":"D.E. deMello","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]},{"id":"https://openalex.org/I47838141","display_name":"Saint Louis University","ror":"https://ror.org/01p7jjy08","country_code":"US","type":"education","lineage":["https://openalex.org/I47838141"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"D E deMello","raw_affiliation_strings":["Department of Pediatrics , Washington University School ofMedicine , St. Louis , Missouri 63110 ; and",", Saint Louis University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics , Washington University School ofMedicine , St. Louis , Missouri 63110 ; and","institution_ids":["https://openalex.org/I204465549"]},{"raw_affiliation_string":", Saint Louis University","institution_ids":["https://openalex.org/I47838141"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5111705492","display_name":"Harvey R. Colten","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"H R Colten","raw_affiliation_strings":["Washington University \u2013 St Louis"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Washington University \u2013 St Louis","institution_ids":["https://openalex.org/I204465549"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5200,"currency":"USD","value_usd":5200},"apc_paid":null,"fwci":14.7776,"has_fulltext":true,"cited_by_count":565,"citation_normalized_percentile":{"value":0.99191136,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":95,"max":100},"biblio":{"volume":"93","issue":"4","first_page":"1860","last_page":"1863"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10549","display_name":"Neonatal Respiratory Health Research","score":0.9951000213623047,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/T10549","display_name":"Neonatal Respiratory Health Research","score":0.9951000213623047,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/T10870","display_name":"Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis","score":0.0007999999797903001,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/T11586","display_name":"Congenital Diaphragmatic Hernia Studies","score":0.0006000000284984708,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/surfactant-protein-b","display_name":"surfactant protein B","score":0.9779999852180481},{"id":"https://openalex.org/keywords/pulmonary-alveolar-proteinosis","display_name":"pulmonary alveolar proteinosis","score":0.8650000095367432},{"id":"https://openalex.org/keywords/neonatal-respiratory-failure","display_name":"neonatal respiratory failure","score":0.9179999828338623},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.8080000281333923},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.9409999847412109},{"id":"https://openalex.org/keywords/pulmonary-surfactant-deficiency","display_name":"pulmonary surfactant deficiency","score":0.8560000061988831},{"id":"https://openalex.org/keywords/term-infants","display_name":"term infants","score":0.625},{"id":"https://openalex.org/keywords/familial-disease","display_name":"familial disease","score":0.36000001430511475}],"concepts":[{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.8039698600769043},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.632122278213501},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5355814099311829},{"id":"https://openalex.org/C2776178081","wikidata":"https://www.wikidata.org/wiki/Q3286546","display_name":"Respiratory disease","level":3,"score":0.5101318955421448},{"id":"https://openalex.org/C2776888751","wikidata":"https://www.wikidata.org/wiki/Q767485","display_name":"Respiratory failure","level":2,"score":0.48572736978530884},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4625861346721649},{"id":"https://openalex.org/C534529494","wikidata":"https://www.wikidata.org/wiki/Q7891","display_name":"Respiratory system","level":2,"score":0.46174055337905884},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.44616594910621643},{"id":"https://openalex.org/C2778972612","wikidata":"https://www.wikidata.org/wiki/Q448698","display_name":"Pulmonary alveolar proteinosis","level":3,"score":0.4232729375362396},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3872534930706024},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.35460180044174194},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2507436275482178},{"id":"https://openalex.org/C2777714996","wikidata":"https://www.wikidata.org/wiki/Q7886","display_name":"Lung","level":2,"score":0.17906156182289124}],"mesh":[{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","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":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011510","descriptor_name":"Proteolipids","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011649","descriptor_name":"Pulmonary Alveolar Proteinosis","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D011649","descriptor_name":"Pulmonary Alveolar Proteinosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011663","descriptor_name":"Pulmonary Surfactants","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D011663","descriptor_name":"Pulmonary Surfactants","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012127","descriptor_name":"Respiratory Distress Syndrome, Newborn","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1172/jci117173","doi":"https://doi.org/10.1172/jci117173","is_oa":true,"landing_page_url":"https://doi.org/10.1172/jci117173","pdf_url":"http://www.jci.org/articles/view/117173/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":"pmid:8163685","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8163685","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"},{"id":"pmh:oai:pubmedcentral.nih.gov:294267","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC294267/","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":"pmh:oai:CiteSeerX.psu:10.1.1.892.5419","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.892.5419","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://dm5migu4zj3pb.cloudfront.net/manuscripts/117000/117173/JCI94117173.pdf","raw_type":"text"}],"best_oa_location":{"id":"doi:10.1172/jci117173","doi":"https://doi.org/10.1172/jci117173","is_oa":true,"landing_page_url":"https://doi.org/10.1172/jci117173","pdf_url":"http://www.jci.org/articles/view/117173/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":[{"id":"https://metadata.un.org/sdg/3","score":0.9763000011444092,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G2658958557","display_name":"LUNG CELL METABOLISM IN VITRO","funder_award_id":"R01HL037591","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G75181316","display_name":null,"funder_award_id":"HL-34748","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G7924089879","display_name":"TROPONIN I IN CARDIAC DEVELOPMENT","funder_award_id":"R29HL050184","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"}],"funders":[{"id":"https://openalex.org/F4320306182","display_name":"March of Dimes Foundation","ror":"https://ror.org/04bd5p711"},{"id":"https://openalex.org/F4320306230","display_name":"American Heart Association","ror":"https://ror.org/013kjyp64"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2019094071.pdf","grobid_xml":"https://content.openalex.org/works/W2019094071.grobid-xml"},"referenced_works_count":25,"referenced_works":["https://openalex.org/W236234631","https://openalex.org/W1547943040","https://openalex.org/W1563743884","https://openalex.org/W1780887781","https://openalex.org/W1983288781","https://openalex.org/W1994204296","https://openalex.org/W2021321934","https://openalex.org/W2032969302","https://openalex.org/W2043061274","https://openalex.org/W2056571800","https://openalex.org/W2064415616","https://openalex.org/W2081202307","https://openalex.org/W2092559748","https://openalex.org/W2093314252","https://openalex.org/W2120634007","https://openalex.org/W2134812217","https://openalex.org/W2138270253","https://openalex.org/W2141360208","https://openalex.org/W2165945808","https://openalex.org/W2175359745","https://openalex.org/W2216014112","https://openalex.org/W2314225431","https://openalex.org/W2331089332","https://openalex.org/W2414110983","https://openalex.org/W4300822296"],"related_works":["https://openalex.org/W1981537521","https://openalex.org/W2153409356","https://openalex.org/W2160686569","https://openalex.org/W2027306950","https://openalex.org/W1489895570","https://openalex.org/W1592917322","https://openalex.org/W136957766","https://openalex.org/W2416357078"],"abstract_inverted_index":{"To":[0],"determine":[1],"the":[2,7,27,30,53,63,106,142],"molecular":[3],"defect":[4],"accounting":[5],"for":[6,47,68,129],"deficiency":[8,131],"of":[9,29,42,45,52,81,99,108],"pulmonary":[10],"surfactant":[11],"protein":[12],"B":[13],"(SP-B)":[14],"in":[15,33,49,62,73,88,105,118,136],"full-term":[16],"neonates":[17],"who":[18,93],"died":[19,94],"from":[20,95],"respiratory":[21],"failure":[22],"associated":[23],"with":[24,77],"alveolar":[25,96,134],"proteinosis,":[26,97],"sequence":[28],"SP-B":[31,54,130],"transcript":[32],"affected":[34,60,112],"infants":[35,61,92],"was":[36,56,86,101,115,148],"ascertained.":[37],"A":[38],"frameshift":[39],"mutation":[40,85,126],"consisting":[41],"a":[43,74],"substitution":[44],"GAA":[46],"C":[48],"codon":[50],"121":[51],"cDNA":[55],"identified.":[57],"The":[58,83],"three":[59],"index":[64],"family":[65],"were":[66],"homozygous":[67],"this":[69,125],"mutation,":[70],"which":[71],"segregated":[72],"fashion":[75],"consistent":[76],"autosomal":[78],"recessive":[79],"inheritance":[80],"disease.":[82],"same":[84],"found":[87],"two":[89],"other":[90],"unrelated":[91],"one":[98],"whom":[100],"also":[102],"homozygous,":[103],"and":[104,132,139],"parents":[107],"an":[109],"additional":[110],"unrelated,":[111],"infant,":[113],"but":[114],"not":[116],"observed":[117],"50":[119],"control":[120],"subjects.":[121],"We":[122],"conclude":[123],"that":[124,141],"is":[127,144],"responsible":[128],"neonatal":[133],"proteinosis":[135],"multiple":[137],"families":[138],"speculate":[140],"disorder":[143],"more":[145],"common":[146],"than":[147],"recognized":[149],"previously.":[150]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":9},{"year":2024,"cited_by_count":13},{"year":2023,"cited_by_count":17},{"year":2022,"cited_by_count":11},{"year":2021,"cited_by_count":10},{"year":2020,"cited_by_count":14},{"year":2019,"cited_by_count":12},{"year":2018,"cited_by_count":13},{"year":2017,"cited_by_count":12},{"year":2016,"cited_by_count":20},{"year":2015,"cited_by_count":20},{"year":2014,"cited_by_count":13},{"year":2013,"cited_by_count":15},{"year":2012,"cited_by_count":13}],"updated_date":"2026-11-14T11:04:58.165337","created_date":"2016-06-24T00:00:00"}