Article
[Identification of mutations in the arginine vasopressin receptor 2 gene in congenital nephrogenic diabetes insipidus patients].
Zhonghua yi xue za zhi - 25 Oct 2002
Gu Feng, Shi Yifan, Deng Jieying, Jin Zimeng
Abstract excerpt
OBJECTIVE: To investigate the mutations of arginine vasopressin receptor 2 (AVPR2) gene in congenital nephrogenic diabetes insipidus (NDI) patients. METHODS: Genomic DNA was extracted from the blood samples of 7 congenital NDI patients, all males, and 24 of their family members. The 6 fragments of AVPR2 gene were amplified by PCR. The gene mutations were preliminarily screened by SSCP and further confirmed by DNA...
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