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Article

ABCA3 mutations associated with pediatric interstitial lung disease.

American journal of respiratory and critical care medicine - 15 Oct 2005

Bullard Janine E, Wert Susan E, Whitsett Jeffrey A, Dean Michael, Nogee Lawrence M

Abstract excerpt

RATIONALE: ABCA3 is a member of the ATP-binding cassette family of proteins that mediate the translocation of a wide variety of substrates, including lipids, across cellular membranes. Mutations in the gene encoding ABCA3 were recently identified in full-term neonates with fatal surfactant deficiency. OBJECTIVE: To test the hypothesis that ABCA3 mutations are not always associated with fatal neonatal lung disease...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 15976379
DOI: 10.1164/rccm.200503-504OC
PMCID: PMC1403838

Genes

ABCA3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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