Associated Papers
ABCA3 c.838C>T (p.Arg280Cys, R280C) and c.697C>T (p.Gln233Ter, Q233X, Q233*) as Causative Variants for RDS: A Family Case Study and Literature Review.
Ognean ML et al.
Biomedicines, 2024
Learning from cystic fibrosis: How can we start to personalise treatment of Children's Interstitial Lung Disease (chILD)?
Bush A
Paediatric Respiratory Reviews, 2024
Quantifying Functional Impairment of ABCA3 Variants Associated with Interstitial Lung Disease.
Yang X et al.
International Journal of Molecular Sciences, 2023
ABCA3 deficiency from birth to adulthood presenting as paediatric interstitial lung disease.
Cho JG et al.
Respirology Case Reports, 2020
Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variants.
Hu JY et al.
Human Mutation, 2020
Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter.
Oltvai ZN et al.
Cold Spring Harbor Molecular Case Studies, 2020
32532878 (PubMed )
Supplement: supp_mcs.a005074_Supplemental_Tables.pdf
ABCA3 mutations led to pulmonary fibrosis and emphysema with pulmonary hypertension in an 8-year-old girl.
Ota C et al.
Pediatric Pulmonology, 2016
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
Wambach JA et al.
American Journal of Respiratory and Critical Care Medicine, 2014
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