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[Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2009

Ke Long-feng, Zheng Lin-wen, Xie Hai-hua, Yan Ai-zhen, Zhu Zhong-yong, Lan Feng-hua

Abstract excerpt

OBJECTIVE: To perform molecular diagnosis for a Chinese pedigree with osteogenesis imperfecta type I. METHODS: Thirty pairs of primers were designed to amplify all the 52 exons, exon boundaries and promoter region of the COL1A1 gene from genomic DNA of peripheral blood cells of the family members. The PCR products were purified and directly sequenced. To check the mutation in normal controls, the genomic DNA from...

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PMID: 19199251
DOI: 10.3760/cma.j.issn.1003-9406.2009.01.011

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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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