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Article

ATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome.

Indian pediatrics - 1 Jul 2014

Panigrahy Nalinikant, Poddutoor Preetham Kumar, Chirla Dinesh Kumar

Abstract excerpt

BACKGROUND: Surfactant protein abnormalities are rare causes of respiratory distress syndrome. CASE CHARACTERISTICS: A late preterm (36 wks) who presented with respiratory distress syndrome. OBSERVATION: He was found to be a homozygous for a G to T transversion at the first base in intron 24, of ABCA3 gene which is necessary for lamellar body formation and surfactant production. OUTCOME: He died of severe...

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Share to ATP-Binding Cassette Transporters
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25031143
DOI: 10.1007/s13312-014-0454-4

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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ATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome.PMID 25031143Read ↗

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