Article
[Mutation analysis of keratin 9 gene in a pedigree with epidermolytic palmoplantar keratoderma].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2004
Zhang Bao-rong, Yin Xin-zhen, Xia Kun, Ding Mei-ping, Hu Zheng-mao, Zheng Min, Liu Zhi-rong, Xia Jia-hui
Abstract excerpt
OBJECTIVE: To identify mutations of keratin 9 (KRT9) gene in a big Chinese family with epidermolytic palmoplantar keratoderma(EPPK) combined with knuckle-pad-like lesions and nail lesions. METHODS: Genomic DNA from peripheral blood of all available members in this family and 50 unrelated healthy individuals was used for amplification of the whole coding sequence and the intron-exon boundaries of KRT9 gene by PCR;...
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