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

Higher prevalence of novel mutations in VHL gene in Chinese Von Hippel-Lindau disease patients.

Urology - 1 Mar 2014

Wang Xi, Zhang Ning, Ning Xianghui, Li Teng, Wu Pengjie, Peng Shuanghe, Fan Yu, Bu Dingfang, Gong Kan

Abstract excerpt

OBJECTIVE: To observe the clinical and molecular characteristics in Chinese Von Hippel-Lindau (VHL) disease patients. MATERIALS AND METHODS: Using polymerase chain reaction (PCR)-direct sequencing and universal primer quantitative fluorescent multiplex-PCR, we examined mutations in VHL gene in 19 VHL disease families recruited from the Department of Urology, Peking University First Hospital in the period from...

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 INDEL Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Pedigree

Share to Point Mutation

Share to von Hippel-Lindau Disease

Share to Von Hippel-Lindau Tumor Suppressor Protein

Source

Identifiers

PMID: 24581539
DOI: 10.1016/j.urology.2013.09.069

Genes

VHL

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

Higher prevalence of novel mutations in VHL gene in Chinese Von Hippel-Lindau disease patients.PMID 24581539Read ↗

Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.Semantic proximity Read ↗

Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease.Semantic proximity Read ↗

A Nonsense Mutation in VHL Gene Causing Von Hippel-lindau Syndrome in a Large Chinese FamilySemantic proximity Read ↗

Novel gene mutation in von Hippel-Lindau disease - a report of two cases.Semantic proximity Read ↗

Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas.Semantic proximity Read ↗

Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families.Semantic proximity Read ↗

Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.Semantic proximity Read ↗

Whole-Exome Sequencing Reveals Novel Variations in Patients with Familial Von Hippel-Lindau Syndrome.Semantic proximity Read ↗

Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis.Semantic proximity Read ↗

Novel VHL Germline Mutations in Iranian RCH PatientsSemantic proximity Read ↗

Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: VHL. Disease: Von Hippel-Lindau syndrome.Semantic proximity Read ↗

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