Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome

Pediatrics

Volumn 130, Issue 6, 2012, Pages

  Wambach, Jennifer A ^a   Wegner, Daniel J ^a   DePass, Kelcey ^a   Heins, Hillary ^a   Druley, Todd E ^a   Mitra, Robi D ^a   An, Ping ^a   Zhang, Qunyuan ^a   Nogee, Lawrence M ^b   Cole, F Sessions ^a   Hamvas, Aaron ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

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

Author keywords

Genetic association studies; Neonatal respiratory distress syndrome; Newborn; Respiratory distress syndrome

Indexed keywords

CHOLINE PHOSPHATE CYTIDYLYLTRANSFERASE; CHOLINEPHOSPHOTRANSFERASE; SURFACTANT PROTEIN C;

ABCA3 GENE; AFRICA; ARTICLE; CHPT1 GENE; COHORT ANALYSIS; DISEASE ASSOCIATION; EUROPE; FEMALE; GENE; GENE MUTATION; GENETIC RISK; HUMAN; INFANT; LPCAT1 GENE; MAJOR CLINICAL STUDY; MALE; NEONATAL RESPIRATORY DISTRESS SYNDROME; NUCLEOTIDE SEQUENCE; PCYT1B GENE; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; SFTPC GENE;

1-ACYLGLYCEROPHOSPHOCHOLINE O-ACYLTRANSFERASE; AFRICAN AMERICANS; ATP-BINDING CASSETTE TRANSPORTERS; CHOLINE-PHOSPHATE CYTIDYLYLTRANSFERASE; COHORT STUDIES; DIACYLGLYCEROL CHOLINEPHOSPHOTRANSFERASE; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXOME; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GESTATIONAL AGE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MUTATION; PULMONARY SURFACTANT-ASSOCIATED PROTEIN C; RESPIRATORY DISTRESS SYNDROME, NEWBORN; RISK;

EID: 84870499614     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2012-0918     Document Type: Article

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