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[Identification of mutations in PKD1 and PKD2 genes in two Chinese families with autosomal dominant polycystic kidney disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2011

Yu Chao-wen, Yang Yuan, Zhang Si-zhong

Abstract excerpt

OBJECTIVE: To identify the responsible mutation of autosomal dominant polycystic kidney disease (ADPKD) in two Chinese families. METHODS: Total genomic DNA of all available family members and 100 unrelated healthy controls was extracted from peripheral blood leukocytes using a standard phenol-chloroform procedure. All exons with intronic flanking sequences of the PKD1 and PKD2 genes in the probands were amplified...

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Source

Identifiers

PMID: 21983717
DOI: 10.3760/cma.j.issn.1003-9406.2011.05.002

Genes

PKD1
PKD2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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