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Article

Respiratory failure in a term newborn due to compound heterozygous ABCA3 mutation: the case report of another lethal variant.

Journal of perinatology : official journal of the California Perinatal Association - 1 Dec 2014

Malý J, Navrátilová M, Hornychová H, Looman A C

Abstract excerpt

Inherited disorders of surfactant metabolism are manifested in neonatal period as a severe respiratory failure not responding to exogenous surfactant administration. We illustrate the case of a term newborn with respiratory failure because of compound heterozygous mutation in adenosine triphosphate-binding cassette transporter A3 (ABCA3)-in exon 24 M1227R and in exon 29 Ins1510fs/ter1519. These mutations of ABCA3...

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Share to ATP-Binding Cassette Transporters
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Infant, Newborn

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Source

Identifiers

PMID: 25421131
DOI: 10.1038/jp.2014.132

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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