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[Spectrum of COL1A1/2 mutations and gene diagnosis in Chinese patients with osteogenesis imperfecta].

Zhonghua yi xue za zhi - 17 Nov 2015

Zhao Xiuli, Xiao Jifang, Wang Han, Ren Xiuzhi, Gao Jinsong, Wu Yiyang, Lu Chaoxia, Zhang Xue

Abstract excerpt

OBJECTIVE: To identify mutations of the type I collagen genes (COL1A1 and COL1A2) in the affected with osteogenesis imperfecta (OI), to establish the spectrum of COL1A1/2 mutations in Chinese OI patients, and to provide prenatal gene diagnosis to the fetuses at high risk. METHODS: Genomic DNA was extracted from peripheral blood by the standard SDS-proteinase K-phenol/chloroform method. All the coding regions and...

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PMID: 26813269

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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