Associated Papers
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 potential of antisense oligonucleotide therapies for inherited childhood lung diseases.
Martinovich KM et al.
Molecular and Cellular Pediatrics, 2018
Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome.
Chen P et al.
Investigative Ophthalmology & Visual Science, 2014
ABCA3 gene mutations in newborns with fatal surfactant deficiency.
Shulenin S et al.
The New England Journal of Medicine, 2004
Genetic disorders of surfactant dysfunction.
Wert SE et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
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