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Article

Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease.

American journal of medical genetics. Part A - 1 Apr 2004

Tredano Mohammed, Griese Matthias, Brasch Frank, Schumacher Silja, de Blic Jacques, Marque Stéphanie, Houdayer Claude, Elion Jacques, Couderc Rémy, Bahuau Michel

Abstract excerpt

Pulmonary surfactant protein C (SP-C) is a highly hydrophobic peptide produced by type-II alveolar cells through the processing of a high-molecular weight precursor (pro-SP-C), that enhances surface tension and facilitates the recycling of pulmonary surfactant in vitro. Recently, two seemingly dominant-negative mutations of the pro-SP-C-encoding gene (SFTPC, MIM 178620), were reported in families with...

Read the complete abstract on PubMed

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15039969
DOI: 10.1002/ajmg.a.20670

Genes

SFTPC
SFTPB

Variants

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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