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[Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2003

Gao Chao, Luo Qiang, Wang Huai-li, Gao Xiao-qun, Fan Qing-tang, Wang Hua, Sheng Guang-yao, Zhou Jian-hua, Gao Tie-zheng

Abstract excerpt

OBJECTIVE: To identify the mutation of spondyloepiphyseal dysplasia tarda (SEDL) gene in a large Chinese family with X-linked spondyloepiphyseal dysplasia tarda and to make a discussion on the pathogenesis of SEDL at the molecular level. METHODS: In two patients, four exons comprising the SEDL open reading frame as well as their exon/intron boundaries were analyzed by bi-directional direct sequencing of PCR...

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PMID: 12579492

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