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Article

Comprehensive genetic variant discovery in the surfactant protein B gene.

Pediatric research - 1 Aug 2007

Hamvas Aaron, Wegner Daniel J, Carlson Christopher S, Bergmann Kelly R, Trusgnich Michelle A, Fulton Lucinda, Kasai Yumi, An Ping, Mardis Elaine R, Wilson Richard K, Cole F Sessions

Abstract excerpt

Completely penetrant mutations in the surfactant protein B gene (SFTPB) and >75% reduction of SFTPB expression disrupt pulmonary surfactant function and cause neonatal respiratory distress syndrome. To inform studies of genetic regulation of SFTPB expression, we created a catalogue of SFTPB varia...

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Source

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Identifiers

PMID: 17597650
DOI: 10.1203/PDR.0b013e3180a03232
PMCID: PMC2765713

Genes

SFTPB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17597650-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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