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.

Kidney international - 1 Apr 1999

Badenas C, Torra R, San Millán J L, Lucero L, Milà M, Estivill X, Darnell A

Abstract excerpt

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic diseases in humans, affecting 1 out of 1000 individuals. At least three different genes are involved in this disease. The search for mutations in PKD1 is complicated because most of the transcript is encoded by a genomic region reiterated more proximally on chromosome 16, and no prevalent mutation has been reported....

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Amino Acid Substitution
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Polycystic Kidney, Autosomal Dominant

Share to Polymorphism, Single-Stranded Conformational

Share to Proteins

Share to TRPP Cation Channels

Source

Identifiers

PMID: 10200984
DOI: 10.1046/j.1523-1755.1999.00368.x

Genes

PKD1

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.

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.PMID 10200984Read ↗

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

Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.Semantic proximity Read ↗

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.Semantic proximity Read ↗

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

Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

Detection of two different nonsense mutations in exon 44 of the PKD1 gene in two unrelated Italian families with severe autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

Novel mutations of PKD1 gene in Chinese 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 ↗

Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.Semantic proximity Read ↗

Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.Semantic proximity Read ↗

Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene.Semantic proximity Read ↗

Novel mutations in the duplicated region of PKD1 gene.Semantic proximity Read ↗

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