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Article

Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.

Scientific reports - 3 Dec 2015

Liu Bei, Chen Song-Chang, Yang Yan-Mei, Yan Kai, Qian Ye-Qing, Zhang Jun-Yu, Hu Yu-Ting, Dong Min-Yue, Jin Fan, Huang He-Feng, Xu Chen-Ming

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most frequently inherited renal diseases caused by mutations in PKD1 and PKD2. We performed mutational analyses of PKD genes in 49 unrelated patients using direct PCR-sequencing and multiplex ligation-dependent probe amplification (MLPA) for PKD1 and PKD2. RT-PCR analysis was also performed in a family with a novel PKD2 splicing mutation....

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Source

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Identifiers

PMID: 26632257
DOI: 10.1038/srep17468
PMCID: PMC4668380

Genes

PKD2
PKD1

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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