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[Study of two pedigrees affected with adult polycystic kidney disease and male infertility resulting from novel mutations of PKD1].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2018

Feng Zonggang, Wei Lei, Tan Li

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of two Chinese pedigrees affected with autosomal dominant adult polycystic kidney disease and male infertility. METHODS: The coding regions of the PKD1 and PKD2 genes were subjected to PCR and Sanger sequencing. Suspected pathogenic mutations were analyzed by pedigree analysis and bioinformatics analysis. Mutation screening was performed using Sanger sequencing of blood...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29896735
DOI: 10.3760/cma.j.issn.1003-9406.2018.03.015

Genes

PKD1
PKD2

Variants

Provenance

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