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Article

Natural variation in four human collagen genes across an ethnically diverse population.

Genomics - 1 Apr 2008

Chan Ting-Fung, Poon Annie, Basu Analabha, Addleman Nick R, Chen Justin, Phong Angie, Byers Peter H, Klein Teri E, Kwok Pui-Yan

Abstract excerpt

Collagens are members of one of the most important families of structural proteins in higher organisms. There are 28 types of collagens encoded by 43 genes in humans that fall into several different functional protein classes. Mutations in the major fibrillar collagen genes lead to osteogenesis imperfecta (COL1A1 and COL1A2 encoding the chains of Type I collagen), chondrodysplasias (COL2A1 encoding the chains of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18272325
DOI: 10.1016/j.ygeno.2007.12.008
PMCID: PMC2737816

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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