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Article

Use of targeted sequence capture and high-throughput sequencing identifies a novel PKD1 mutation involved in adult polycystic kidney disease.

Gene - 15 Nov 2017

Sha Yan-Kun, Sha Yan-Wei, Mei Li-Bin, Huang Xian-Jing, Wang Xu, Lin Shao-Bin, Li Lin, Li Ping

Abstract excerpt

Polycystic kidney disease (PKD) is a common inherited disease that is characterized by a progressive development of renal cysts. Approximately 85% of PKD cases are due to mutations in the polycystin 1 (PKD1) gene. Here, we report a pedigree containing nine patients with autosomal dominant PKD (ADPKD). Using targeted exome sequencing of PKD1 and PKD2 genes, we identified a novel heterozygous frameshift mutation...

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Source

Identifiers

PMID: 28870863
DOI: 10.1016/j.gene.2017.08.040

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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