Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutational analysis of PKD1 gene in a Chinese family with autosomal dominant polycystic kidney disease.

International journal of clinical and experimental pathology - 1 Jan 2015

Liu Jingyan, Li Lanrong, Liu Qingmin

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disease and common renal disease. Mutations of PKD genes are responsible for this disease. We analyzed a large Chinese family with ADPKD using Sanger sequencing to identify the mutation responsible for this disease. The family comprised 27 individuals including 10 ADPKD patients. These ADPKD patients had severe renal disease and most of them...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asian People
Share to China
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pedigree

Share to Polycystic Kidney, Autosomal Dominant

Share to TRPP Cation Channels

Source

Open in PubMed Open full text

Identifiers

PMID: 26722532
PMCID: PMC4680477

Genes

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutational analysis of PKD1 gene in a Chinese family with autosomal dominant polycystic kidney disease.PMID 26722532Read ↗

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

Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease.Semantic proximity Read ↗

Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.Semantic proximity Read ↗

Identification of novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease by targeted next-generation sequencing.Semantic proximity Read ↗

Identification of novel PKD1 mutations in two Chinese families with autosomal dominant polycystic kidney disease by targeted next generation sequencing.Semantic proximity Read ↗

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

Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

[Analysis of PKD1 gene mutation in a pedigree affected with autosomal dominant polycystic kidney disease].Semantic proximity Read ↗

A de novo PKD1 mutation in a Chinese family with autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

Mutational analysis within the 3' region of the PKD1 gene in Japanese families.Semantic proximity Read ↗

Mutational Screening of PKD1 and PKD2 Genes in Iranian Population Diagnosed with Autosomal Dominant Polycystic Kidney Disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.