Article
[Analysis of AVPR2 gene mutation in a pedigree affected with congenital nephrogenic diabetes insipidus].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2016
Dai Zhijuan, Ruan Luya, Jin Jian, Qian Yanying, Wang Liang, Shi Zhen, Wu Chaoming
Abstract excerpt
OBJECTIVE: To detect potential mutation in a pedigree affected with congenital nephrogenic diabetes insipidus (NDI). METHODS: Clinical data of a male patient affected with NDI was collected. Genomic DNA was extracted from peripheral blood samples from the patient and five family members. The whole coding region of the arginine vasopressin receptor 2 (AVPR2) gene was amplified by PCR and directly sequenced....
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