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Article

[Mutation analysis of a Chinese family with genetic dentinogenesis imperfecta].

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

Qu Er-jun, Zhang Hong-bo, Chen Lan-ying, Gu Ling-biao

Abstract excerpt

OBJECTIVE: To study the genetic etiology of an autosomal dominant dentinogenesis imperfecta in a Chinese family. METHODS: The molecular change of the disease in the family was analyzed through the clinical examination, linkage analysis, mutational screening of the DSPP gene and restriction fragment length polymorphism analysis. RESULTS: The disease related gene was completely linked with microsatellite marker...

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Identifiers

PMID: 19806576
DOI: 10.3760/cma.j.issn.1003-9406.2009.05.013

Genes

DSPP

Variants

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