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Article

Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer.

American journal of human genetics - 1 Jan 2009

Wang Yongyu, Kuan Phillip J, Xing Chao, Cronkhite Jennifer T, Torres Fernando, Rosenblatt Randall L, DiMaio J Michael, Kinch Lisa N, Grishin Nick V, Garcia Christine Kim

Abstract excerpt

Idiopathic pulmonary fibrosis (IPF) is a lethal scarring lung disease that affects older adults. Heterozygous rare mutations in the genes encoding telomerase are found in approximately 15% of familial cases. We have used linkage to map another disease-causing gene in a large family with IPF and adenocarcinoma of the lung to a 15.7 Mb region on chromosome 10. We identified a rare missense mutation in a candidate...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19100526
DOI: 10.1016/j.ajhg.2008.11.010
PMCID: PMC2668050

Genes

SFTPA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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