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Mutation analysis of ATP2C1 gene in a Chinese family with Hailey-Hailey disease
Author(s): 
Pages: 212-214
Year: Issue:  2
Journal: ACTA UNIVERSITATIS MEDICINALIS ANHUI

Keyword:  天疱疮良性家族性/遗传学突变;
Abstract: 目的 研究家族性慢性良性天疱疮一家系的ATP2C1基因突变情况.方法 采用聚合酶链反应(PCR)及直接测序的方法对家系中4例患者ATP2C1基因进行突变检测,以家系中3例健康者和100例无血缘关系的正常人作对照.结果 该家系4例患者ATP2C1基因的7号外显子第457位碱基胞嘧啶C被胸腺嘧啶T替代,导致第153位的精氨酸被终止密码子取代(R153X),家系中健康对照及无血缘关系的正常人均未发现该突变.结论 无义突变c.457C>T(p.R153X)是导致该家系发病的主要原因.
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