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
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
Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.
Xu KK et al.
Pediatric Pulmonology, 2022
Structure-Based Understanding of ABCA3 Variants.
Onnée M et al.
International Journal of Molecular Sciences, 2021
34638622 (PubMed )
Supplement: ijms-22-10282-s001.zip › Supplementary_Tables_IJMS.pdf
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
The biology of the ABCA3 lipid transporter in lung health and disease.
Beers MF et al.
Cell and Tissue Research, 2017
Respiratory failure in a term infant with cis and trans mutations in ABCA3.
Jackson T et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2015
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