Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease

Acta Paediatrica, International Journal of Paediatrics

Volumn 96, Issue 2, 2007, Pages 185-190

  Saugstad, Ola D ^a,g   Hansen, Thor Willy Ruud ^a   Rønnestad, Arild ^a   Nakstad, Britt ^a,b   Tølløfsrud, Per Arne ^a   Reinholt, Finn ^a   Hamvas, Aaron ^c   Cole, F Sessions ^c   Dean, Michael ^d   Wert, Susan E ^e   Whitsett, Jeffrey A ^e   Nogee, Lawrence M ^f  

^a UNIVERSITY OF OSLO   (Norway)

^b AKERSHUS UNIVERSITY HOSPITAL   (Norway)

^c ST LOUIS CHILDREN S HOSPITAL   (United States)

^d NATIONAL CANCER INSTITUTE   (United States)

^e UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^f JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

ABCA3 deficiency; Human genetic disorders; Neonatal lung failure; Pulmonary surfactant; Respiratory distress syndrome

Indexed keywords

ABC TRANSPORTER;

ALLELE; ARTICLE; CASE REPORT; CONTROLLED STUDY; DISEASE COURSE; DNA DETERMINATION; ELECTRON MICROSCOPY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; HISTOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LUNG DISEASE; LUNG PARENCHYMA; MALE; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY DISTRESS SYNDROME;

ATP-BINDING CASSETTE TRANSPORTERS; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NORWAY; RESPIRATORY DISTRESS SYNDROME, NEWBORN;

EID: 33847193568     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2007.00016.x     Document Type: Article

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