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 within the 3' region of the PKD1 gene in Japanese families.

Mutation research - 1 Dec 2001

Tsuchiya K, Komeda M, Takahashi M, Yamashita N, Cigira M, Suzuki T, Suzuki K, Nihei H, Mochizuki T

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is a widespread genetic disease that causes renal failure. One of the genes that is responsible for this disease, PKD1, has been identified and characterized. Many mutations of the PKD1 gene have been identified in the Caucasian population. We investigated the occurrence of mutations in this gene in the Japanese population. We analyzed each exon in the 3'...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Exons
Share to Japan

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Polycystic Kidney, Autosomal Dominant

Share to Proteins

Share to Sequence Deletion

Share to TRPP Cation Channels

Source

Identifiers

PMID: 11691639
DOI: 10.1016/s0027-5107(01)00226-3

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 within the 3' region of the PKD1 gene in Japanese families.PMID 11691639Read ↗

Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family.Semantic proximity Read ↗

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

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

Three novel mutations of the PKD1 gene in Korean patients 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 ↗

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

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

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

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

Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease.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 missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney diseaseSemantic proximity Read ↗

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