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Article

[Analysis of PKD1 gene mutation in a family affected with autosomal dominant polycystic kidney disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2017

Mei Jin, Wang Min, Wang Hao, Zhang Lidan, Zhang Pan

Abstract excerpt

OBJECTIVE: To determine the molecular etiology for a family affected with autosomal dominant polycystic kidney disease and provide prenatal diagnosis for the family. METHODS: Clinical data of the family was collected. Target region sequencing with monogenetic disorders capture array combined with Sanger sequencing and bioinformatics analysis were performed in turn. SIFT and NCB1 were used to evaluate the...

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Identifiers

PMID: 28604956
DOI: 10.3760/cma.j.issn.1003-9406.2017.03.011

Genes

PKD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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