Associated Papers
Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.
Xu KK et al.
Pediatric Pulmonology, 2022
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.
Huang H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
35121658 (PubMed )
Supplement: pnas.2105228119.sapp.pdf
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
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