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Article

A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome.

Molecular vision - 28 Aug 2006

Qin Wei, Shu Anli, Qian Xueqing, Gao Jianjun, Xing Qinghe, Zhang Juan, Zheng Yonglan, Li Xingwang, Li Sheng, Feng Guoyin, He Lin

Abstract excerpt

PURPOSE: The molecular characterization of 34 members of a Chinese family, with 22 members in four generations, affected with Waardenburg syndrome (WS1). METHODS: A detailed family history and clinical data were collected. A genome-wide scan by two-point linkage analysis using more than 400 microsatellite markers in combination with haplotype analysis was performed. Mutation screening was carried out in the...

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Source

Identifiers

PMID: 16971891

Genes

PAX3

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