Condition: Surfactant Metabolism Dysfunction, Pulmonary, 3


rs121909182 in ABCA3 gene and Surfactant Metabolism Dysfunction, Pulmonary, 3 PMID 15044640 2004 ABCA3 gene mutations in newborns with fatal surfactant deficiency.

PMID 15976379 2005 ABCA3 mutations associated with pediatric interstitial lung disease.

PMID 22304854 2012 A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection.

PMID 18317237 2008 Population and disease-based prevalence of the common mutations associated with surfactant deficiency.

PMID 18676873 2008 Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease.

PMID 24871971 2014 Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

PMID 29505158 2018 ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.

PMID 22434821 2012 Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation.

PMID 23166334 2012 Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.

PMID 22866751 2012 Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals.

PMID 27374344 2016 Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.