Functional Genomics of ABCA3 Variants

Rare or private, biallelic variants in the ABCA3 (ATP-binding cassette transporter A3) gene are the most common monogenic cause of lethal neonatal respiratory failure and childhood interstitial lung disease. Functional characterization of fewer than 10% of over 200 disease-associated ABCA3 variants...

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Detalles Bibliográficos
Publicado en:Am J Respir Cell Mol Biol
Main Authors: Wambach, Jennifer A., Yang, Ping, Wegner, Daniel J., Heins, Hillary B., Luke, Cliff, Li, Fuhai, White, Frances V., Cole, F. Sessions
Formato: Artigo
Idioma:Inglês
Publicado: American Thoracic Society 2020
Assuntos:
Major Technical Advances
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7528924/
https://ncbi.nlm.nih.gov/pubmed/32692933
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1165/rcmb.2020-0034MA
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