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Article

Respiratory failure in a term infant with cis and trans mutations in ABCA3.

Journal of perinatology : official journal of the California Perinatal Association - 1 Mar 2015

Jackson T, Wegner D J, White F V, Hamvas A, Cole F S, Wambach J A

Abstract excerpt

A full-term female neonate presented with persistent respiratory failure and radiologic studies consistent with surfactant deficiency. Sequencing of the ATP-binding cassette transporter A3 gene (ABCA3) revealed three mutations: R280C, V1399M and Q1589X. The infant underwent bilateral lung transplantation at 9 months of age and is alive at 3 years of age. Parental sequencing demonstrated that two of the mutations...

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Source

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Identifiers

PMID: 25712598
DOI: 10.1038/jp.2014.236
PMCID: PMC4341920

Genes

ABCA3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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