Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.

doi:10.1093/hmg/ddr508

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Article

Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.

Human molecular genetics - 15 Feb 2012

Flamein Florence, Riffault Laure, Muselet-Charlier Céline, Pernelle Julie, Feldmann Delphine, Jonard Laurence, Durand-Schneider Anne-Marie, Coulomb Aurore, Maurice Michèle, Nogee Lawrence M, Inagaki Nobuya, Amselem Serge, Dubus Jean Christophe, Rigourd Virginie, Brémont François, Marguet Christophe, Brouard Jacques, de Blic Jacques, Clement Annick, Epaud Ralph, Guillot Loïc

Abstract excerpt

ABCA3 (ATP-binding cassette subfamily A, member 3) is expressed in the lamellar bodies of alveolar type II cells and is crucial to pulmonary surfactant storage and homeostasis. ABCA3 gene mutations have been associated with neonatal respiratory distress (NRD) and pediatric interstitial lung disease (ILD). The objective of this study was to look for ABCA3 gene mutations in patients with severe NRD and/or ILD. The...

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Identifiers

PMID: 22068586
DOI: 10.1093/hmg/ddr508
PMCID: PMC3263986

Genes

ABCA3

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