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Article

Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred.

American journal of respiratory and critical care medicine - 1 May 2002

Thomas Alan Q, Lane Kirk, Phillips John, Prince Melissa, Markin Cheryl, Speer Marcy, Schwartz David A, Gaddipati Radhika, Marney Annis, Johnson Joyce, Roberts Richard, Haines Jonathan, Stahlman Mildred, Loyd James E

Abstract excerpt

Familial pulmonary fibrosis is a heterogeneous group of interstitial lung diseases of unknown cause that is associated with multiple pathologic subsets. Mutations in the surfactant protein C (SP-C) gene (SFTPC) are associated with familial desquamative and nonspecific interstitial pneumonitis. Genetic studies in familial usual interstitial pneumonitis have been inconclusive. Using a candidate gene approach, we...

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Source

Identifiers

PMID: 11991887
DOI: 10.1164/rccm.200112-123OC

Genes

SFTPC

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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