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Article

Population and disease-based prevalence of the common mutations associated with surfactant deficiency.

Pediatric research - 1 Jun 2008

Garmany Tami H, Wambach Jennifer A, Heins Hillary B, Watkins-Torry Julie M, Wegner Daniel J, Bennet Kate, An Ping, Land Garland, Saugstad Ola D, Henderson Howard, Nogee Lawrence M, Cole F Sessions, Hamvas Aaron

Abstract excerpt

The prevalence of the common mutations in the surfactant protein-B (121ins2), surfactant protein-C (I73T), and ATP-binding cassette member A3 (E292V) genes in population-based or case-control cohorts of newborn respiratory distress syndrome (RDS) is unknown. We determined the frequencies of these mutations in ethnically diverse population and disease-based cohorts using restriction enzyme analysis (121ins2 and...

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Source

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Identifiers

PMID: 18317237
DOI: 10.1203/PDR.0b013e31816fdbeb
PMCID: PMC2765719

Genes

ABCA3

Provenance

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