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Article

[A new mutation in COL1A1 gene in a family with osteogenesis imperfecta].

Zhonghua yi xue za zhi - 17 Jan 2006

Wang Zhuo, Xu Dong-liang, Chen Zheng, Hu Jun-yong, Yang Zheng, Wang Lian-tang

Abstract excerpt

OBJECTIVE: Osteogenesis imperfecta (OI) is a congenital disease of connective tissue of increased bone fragility and low bone mass, most often caused by single amino acid substitution of glycine residues in the collagen, type I, alpha 1 protein (COL1A1) gene or the collagen, type I, alpha 2 prote...

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PMID: 16638323

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16638323-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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