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

[Identification of VEGFR3 gene mutation in a Chinese family with autosomal dominant primary congenital lymphoedema].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2010

Sheng Ji-qun, Zeng Feng, Li Chang, Liu Jing-yu, Wang Qing, Liu Mu-gen

Abstract excerpt

OBJECTIVE: To identify the disease-causing gene in a four-generation Chinese family with 9 members affected with primary congenital lymphoedema (PCL, also known as Milroy disease). METHODS: Linkage analysis was performed with a few microsatellite markers flanking the candidate genetic loci for PCL, including 3 known genes associated with autosomal dominant PCL. For mutation analysis, VEGFR3 gene was sequenced...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Cataract

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Loci

Share to Lod Score

Share to Lymphedema

Share to Microsatellite Repeats

Share to Point Mutation

Share to Vascular Endothelial Growth Factor Receptor-3

Source

Identifiers

PMID: 20677139
DOI: 10.3760/cma.j.issn.1003-9406.2010.04.003

Variants

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

[Identification of VEGFR3 gene mutation in a Chinese family with autosomal dominant primary congenital lymphoedema].PMID 20677139Read ↗

A novel mutation in the conserved sequence of vascular endothelial growth factor receptor 3 leads to primary lymphoedema.Semantic proximity Read ↗

Identification of a novel VEGFR-3 missense mutation in a Chinese family with hereditary lymphedema type I.Semantic proximity Read ↗

Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedemaSemantic proximity Read ↗

Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas.Semantic proximity Read ↗

Recessive primary congenital lymphoedema caused by a <i>VEGFR3</i> mutationSemantic proximity Read ↗

A novel VEGFR3 mutation causes Milroy disease.Semantic proximity Read ↗

Immunohistochemical Evaluation of Histological Change in a Chinese Milroy Disease Family With Venous and Skin AbnormitiesSemantic proximity Read ↗

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.Semantic proximity Read ↗

Milroy disease and the VEGFR-3 mutation phenotype.Semantic proximity Read ↗

Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.Semantic proximity Read ↗

Mutations in the VEGFR3 Signaling Pathway Explain 36% of Familial LymphedemaSemantic proximity Read ↗

Clinical staging and genetic profiling of Korean patients with primary lymphedema using targeted gene sequencingSemantic proximity Read ↗

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