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Article

A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.

Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2008

Xia Xin-Yi, Cui Ying-Xia, Huang Yu-Feng, Pan Lian-Jun, Yang Bin, Wang Hao-Yang, Li Xiao-Jun, Shi Yi-Chao, Lu Hong-Yong, Zhou Yu-Chun

Abstract excerpt

BACKGROUND: Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare heterogeneous group of inherited disorders characterized by low bone mass and increased bone fragility. The four major clinical criteria for diagnosis of OI are osteoporosis with abnormal fragility of the skeleton, blue sclera, dentinogenesis imperfecta, and premature otosclerosis. The presence of two of these abnormalities...

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Identifiers

PMID: 18755172
DOI: 10.1016/j.cca.2008.07.030

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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