Article
Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.
American journal of respiratory cell and molecular biology - 1 Nov 2016
Wambach Jennifer A, Yang Ping, Wegner Daniel J, Heins Hillary B, Kaliberova Lyudmila N, Kaliberov Sergey A, Curiel David T, White Frances V, Hamvas Aaron, Hackett Brian P, Cole F Sessions
Abstract excerpt
Mutations in the ATP-binding cassette transporter A3 gene (ABCA3) result in severe neonatal respiratory distress syndrome and childhood interstitial lung disease. As most ABCA3 mutations are rare or private, determination of mutation pathogenicity is often based on results from in silico prediction tools, identification in unrelated diseased individuals, statistical association studies, or expert opinion....
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