Associated Papers
Novel Compound Heterozygous Mutation of the ABCA3 Gene in a Patient with Neonatal-Onset Interstitial Lung Disease.
Serra G et al.
Journal of Clinical Medicine, 2025
Cryo-EM structures of the human surfactant lipid transporter ABCA3.
Xie T et al.
Science Advances, 2022
35394827 (PubMed )
Supplement: sciadv.abn3727_sm.pdf
Systematic review of drug effects in humans and models with surfactant-processing disease.
Klay D et al.
European Respiratory Review : an Official Journal of the European Respiratory Society, 2018
Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report.
Pachajoa H et al.
Journal of Medical Case Reports, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Respiratory failure in a term newborn due to compound heterozygous ABCA3 mutation: the case report of another lethal variant.
Malý J et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2014
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