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Article

Analysis of gene mutations in PKD1/PKD2 by multiplex ligation-dependent probe amplification: some new findings.

Renal failure - 1 Nov 2015

Yu Guopeng, Qian Xiaoqiang, Wu Yu, Li Xinjuan, Chen Jianhua, Xu Jianfeng, Qi Jun

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is a serious genetic disorder that can lead to chronic renal disease. Protein dysfunction caused by mutations in the genes polycystic kidney disease 1 (PKD1) and polycystic kidney disease 2 (PKD2) is an important factor in the pathogenesis of ADPKD. In the present study, 30 Chinese patients with confirmed diagnosis of ADPKD, based on ultrasound or computerized...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26381842
DOI: 10.3109/0886022X.2015.1088349

Genes

PKD1
PKD2

Provenance

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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