Fatal familial lung disease caused by ABCA3 deficiency without identified ABCA3 mutations.
Gower
W Adam
WA
Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, MD 21287-2533, USA. agower3@jhmi.edu
Wert
Susan E
SE
Ginsberg
Jennifer S
JS
Golan
Agneta
A
Whitsett
Jeffrey A
JA
Nogee
Lawrence M
LM
D018528:ATP-Binding Cassette Transporters / Q000235:genetics / Q000378:metabolism*; D001344:Autopsy; D002648:Child; D020090:Chromosome Segregation; D005091:Exons; D005190:Family; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008168:Lung / Q000378:metabolism* / Q000648:ultrastructure; D008171:Lung Diseases / Q000150:complications / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D012131:Respiratory Insufficiency / Q000209:etiology; D035781:Siblings
C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters