Article
ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.
Human mutation - 1 Jun 2018
Schindlbeck Ulrike, Wittmann Thomas, Höppner Stefanie, Kinting Susanna, Liebisch Gerhard, Hegermann Jan, Griese Matthias
Abstract excerpt
Mutations in the ATP-binding cassette subfamily A member 3 (ABCA3) gene are the most common monogenetic cause of surfactant dysfunction disorders in newborns and interstitial lung diseases in children and young adults. Although the effect of mutations resulting in truncated or incomplete proteins can be predicted, the consequences of missense variants cannot be as easily. Our aim was to investigate the...
Topics
- A549 Cells
- ATP-Binding Cassette Transporters
- Genetic Predisposition to Disease
- Humans
- Lung Diseases, Interstitial
- Mutation, Missense
- Phenotype