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Article

Haplotype analysis of ABCA3: association with respiratory distress in very premature infants.

Annals of medicine - 1 Jan 2008

Karjalainen Minna K, Haataja Ritva, Hallman Mikko

Abstract excerpt

BACKGROUND: Adenosine triphosphate (ATP)-binding cassette transporter A3 (ABCA3) gene mutations cause fatal respiratory failure in term infants, but common ABCA3 polymorphisms have remained uncharacterized at the population level. AIM: To define a subset of tagging single-nucleotide polymorphisms (tSNPs) which capture most of the variation within the ABCA3 gene, and to assess ABCA3 as a novel candidate gene for...

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Share to ATP-Binding Cassette Transporters
Share to Bronchopulmonary Dysplasia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ABCA3 gene

Share to Genetic Predisposition to Disease

Share to Infant, Newborn

Share to Infant, Premature

Share to Polymorphism, Single Nucleotide

Share to Respiratory Distress Syndrome, Newborn

Source

Identifiers

PMID: 18246475
DOI: 10.1080/07853890701611094

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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Haplotype analysis of ABCA3: association with respiratory distress in very premature infants.PMID 18246475Read ↗

Polymorphism analysis of the ABCA3 gene: association with neonatal respiratory distress syndrome in preterm infants.Semantic proximity Read ↗

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The Haplotype TGGAG in the ABCA3 Gene Increases the Risk of Respiratory Distress Syndrome in Preterm Infants in Southern China.Semantic proximity Read ↗

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Whole exome sequencing identifies a novel variant in ABCA3 in an individual with fatal congenital surfactant protein deficiency.Semantic proximity Read ↗

A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death.Semantic proximity Read ↗

ABCA3 c.838C>T (p.Arg280Cys, R280C) and c.697C>T (p.Gln233Ter, Q233X, Q233*) as Causative Variants for RDS: a Review of the Literature and Family Case StudySemantic proximity Read ↗

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Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease.Semantic proximity Read ↗

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Clinical course and long-term follow-up of a preterm infant with non-fatal respiratory distress syndrome due to heterozygous ABCA3 gene mutation: A case report and review of literature.Semantic proximity Read ↗

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