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Article

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

Acta paediatrica (Oslo, Norway : 1992) - 1 Feb 2007

Saugstad Ola D, Hansen Thor Willy Ruud, Rønnestad Arild, Nakstad Britt, Tølløfsrud Per Arne, Reinholt Finn, Hamvas Aaron, Coles F Sessions, Dean Michael, Wert Susan E, Whitsett Jeffrey A, Nogee Lawrence M

Abstract excerpt

AIM: To investigate whether intractable respiratory distress syndrome in three Norwegian term infants was due to mutations in the ABCA3 gene. METHODS: The genes encoding SP-B (SFTPB), SP-C (SFTPC), and ABCA3 (ABCA3) were sequenced from the parents of one infant and two unrelated infants with fatal neonatal lung disease. Lung tissue was examined by histology, immunohistochemistry and electron microscopy. RESULTS:...

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Source

Identifiers

PMID: 17429902
DOI: 10.1111/j.1651-2227.2007.00016.x

Genes

ABCA3
SFTPB
SFTPC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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