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Article

MUC1 gene polymorphisms are associated with serum KL-6 levels and pulmonary dysfunction in pulmonary alveolar proteinosis.

Orphanet journal of rare diseases - 23 Apr 2016

Bonella Francesco, Long Xiaoping, Ohshimo Shinichiro, Horimasu Yasushi, Griese Matthias, Guzman Josune, Kohno Nobuoki, Costabel Ulrich

Abstract excerpt

BACKGROUND: KL-6, a human MUC1 mucin, is a sensitive biomarker for interstitial lung diseases including pulmonary alveolar proteinosis (PAP). A correlation between MUC1 gene single nucleotide polymorphism (SNP) rs4072037 genotype and serum KL-6 levels has been reported. This study was aimed at investigating the correlation between MUC1 SNP genotype, severity of disease and disease outcome in PAP. METHODS: Twenty...

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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: 27108412
DOI: 10.1186/s13023-016-0430-2
PMCID: PMC4841967

Genes

MUC1

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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