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Article

An intronic ABCA3 mutation that is responsible for respiratory disease.

Pediatric research - 1 Jun 2012

Agrawal Amit, Hamvas Aaron, Cole F Sessions, Wambach Jennifer A, Wegner Daniel, Coghill Carl, Harrison Keith, Nogee Lawrence M

Abstract excerpt

INTRODUCTION: Member A3 of the ATP-binding cassette family of transporters (ABCA3) is essential for surfactant metabolism. Nonsense, missense, frameshift, and splice-site mutations in the ABCA3 gene (ABCA3) have been reported as causes of neonatal respiratory failure (NRF) and interstitial lung disease. We tested the hypothesis that mutations in noncoding regions of ABCA3 may cause lung disease. METHODS:...

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Source

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Identifiers

PMID: 22337229
DOI: 10.1038/pr.2012.21
PMCID: PMC3607324

Genes

ABCA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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