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Article

A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.

Gene - 10 Jul 2012

Peng Hao, Zhang Yuhui, Long Zhigao, Zhao Ding, Guo Zhenxin, Xue Jinjie, Xie Zhiguo, Xiong Zhimin, Xu Xiaojuan, Su Wei, Wang Bing, Xia Kun, Hu Zhengmao

Abstract excerpt

Osteogenesis imperfect (OI) is a heritable connective tissue disorder with bone fragility as a cardinal manifestation, accompanied by short stature, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, blue sclerae and hearing loss. Dominant form of OI is caused by mutations in the type...

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Source

Identifiers

PMID: 22565191
DOI: 10.1016/j.gene.2012.04.023

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22565191-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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