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Article

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

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2014

Zhao Ding, Yang Junmei, Guo Zhenxin, Li Rui

Abstract excerpt

OBJECTIVE: To study a family affected with osteogenesis imperfecta for potential mutations in COL1A1 gene. METHODS: Clinical data of an affected family was collected. Potential mutation of the COL1A1 gene was screened using polymerase chain reaction and direct sequencing. Suspected mutation was detected in 20 unaffected relatives and 200 unrelated healthy controls. RESULTS: Analysis of RNA splicing has revealed a...

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Identifiers

PMID: 24711029
DOI: 10.3760/cma.j.issn.1003-9406.2014.02.013

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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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