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Article

Modification of PCR conditions and design of exon-specific primers for the efficient molecular diagnosis of PKD1 mutations.

Kidney & blood pressure research - 1 Jan 2014

Liu WeiQiang, Chen Min, Wei Jun, He WenYin, Li ZhiHua, Sun XiaoFang, Shi YuLing

Abstract excerpt

BACKGROUND/AIMS: Autosomal-dominant polycystic kidney disease (ADPKD) is a heterogeneous genetic disorder caused by mutations in the PKD1 and PKD2 genes. Currently, long-range PCR followed by nested PCR and sequencing (LRNS) is the gold standard approach for PKD1 testing. However, LRNS is complicated by the high structural and sequence complexity of PKD1, which makes the procedure for amplification and analysis...

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Source

Identifiers

PMID: 25531466
DOI: 10.1159/000368464

Genes

PKD1
PKD2

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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