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[Mutation analysis of keratin 5 and keratin 14 genes in a family with epidermolysis bullosa simplex with mottled pigmentation].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2011

Liu Xia, Xia Li, Wang Jing-xia, Hao Yan-jie, Yang Jing, Liu Feng-qin, Guo Rui

Abstract excerpt

OBJECTIVE: To identify keratin 5 (K5) and keratin 14 (K14) gene mutations in a family affected with epidermolysis bullosa simplex with mottled pigmentation. METHODS: Genomic DNA was extracted from peripheral blood samples obtained from eleven patients from the family and controls. All the exons of K5 and K14 genes were amplified using polymerase chain reaction (PCR) and directly sequenced. RESULTS: By DNA...

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PMID: 22161089
DOI: 10.3760/cma.j.issn.1003-9406.2011.06.003

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