Associated Papers
Genetic susceptibility to interstitial lung disease: a case of ABCA3 gene mutation and multi-pathogen infection.
Gao W et al.
Quantitative Imaging in Medicine and Surgery, 2025
Two Siblings with Missense Homozygous ABCA3 R43H Mutation Showing Good Response to Glucocorticoid.
Mocan Çağlar Y et al.
Indian Journal of Pediatrics, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Quantifying Functional Impairment of ABCA3 Variants Associated with Interstitial Lung Disease.
Yang X et al.
International Journal of Molecular Sciences, 2023
Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.
Xu KK et al.
Pediatric Pulmonology, 2022
Cryo-EM structures of the human surfactant lipid transporter ABCA3.
Xie T et al.
Science Advances, 2022
35394827 (PubMed )
Supplement: sciadv.abn3727_sm.pdf
A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death.
Al-Iede M et al.
Congenital Anomalies, 2021
ABCA3 deficiency from birth to adulthood presenting as paediatric interstitial lung disease.
Cho JG et al.
Respirology Case Reports, 2020
Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report.
Pachajoa H et al.
Journal of Medical Case Reports, 2016
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
Wambach JA et al.
American Journal of Respiratory and Critical Care Medicine, 2014
An intronic ABCA3 mutation that is responsible for respiratory disease.
Agrawal A et al.
Pediatric Research, 2012
Clinical, radiological and pathological features of ABCA3 mutations in children.
Doan ML et al.
Thorax, 2008
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