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Article

Putative mutation of PKD1 gene responsible for autosomal dominant polycystic kidney disease in a Chinese family.

International journal of urology : official journal of the Japanese Urological Association - 1 Mar 2011

Li Jing, Yu Chaowen, Tao Ye, Yang Yuan, Hu Zhangxue, Zhang Sizhong

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is a common and severe renal disease. Mutations of PKD1 and PKD2 genes are responsible for approximately 85% and 15% of ADPKD cases, respectively. In the present study, PKD1 and PKD2 genes were analyzed in a large Chinese family with ADPKD using denaturing high-performance liquid chromatography and DNA sequencing. A novel mutation, c.3623-3624insGTGT in exon 15...

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Source

Identifiers

PMID: 21332816
DOI: 10.1111/j.1442-2042.2010.02709.x

Genes

PKD1
PKD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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