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Article

ATP-binding cassette member A3 (E292V) gene mutation and pulmonary morbidity in very-low-birth-weight infants.

Acta paediatrica (Oslo, Norway : 1992) - 1 Apr 2012

Härtel Christoph, Felderhoff-Müser Ursula, Gebauer Corinna, Hoehn Thomas, Kribs Angela, Laux Reinhard, Möller Jens, Segerer Hugo, Teig Norbert, von der Wense Axel, Wieg Christian, Stichtenoth Guido, Herting Egbert, Göpel Wolfgang

Abstract excerpt

AIM: ATP-binding cassette member A 3 (ABCA3) plays a critical role for the transport of surfactant phospholipids into the lamellar bodies of type II alveolar epithelial cells. Term infants carrying the E292V missense mutation of the gene encoding ABCA3 are likely to develop respiratory distress syndrome, and the mutation has also been linked to interstitial lung disease in paediatric patients. The aim of this...

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Source

Identifiers

PMID: 22145626
DOI: 10.1111/j.1651-2227.2011.02553.x

Genes

ABCA3

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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