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

Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family.

Molecular vision - 1 Jan 2014

Fu Qing, Liu Peng, Lu Qingsheng, Wang Feng, Wang Hui, Shen Wei, Xu Fei, Liu Lin, Sergeev Yuri V, Sui Ruifang

Abstract excerpt

PURPOSE: To identify genetic defects in a Chinese family with ectopia lentis (EL) and varicose great saphenous vein (GSV) and to analyze the correlations between phenotype and genotype. METHODS: Twenty-two (12 affected subjects and ten unaffected subjects) among 53 members of a Chinese family underwent complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA was extracted from the leukocytes in...

Read the complete abstract on PubMed

Topics

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

Share to Angiography
Share to Ectopia Lentis

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

Share to Family

Share to Fibrillin-1

Share to Fibrillins

Share to Microfilament Proteins

Share to Saphenous Vein

Share to Varicose Veins

Source

Open in PubMed Open full text

Identifiers

PMID: 24940037
PMCID: PMC4057249

Genes

FBN1

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family.PMID 24940037Read ↗

Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis.Semantic proximity Read ↗

Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families.Semantic proximity Read ↗

A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome.Semantic proximity Read ↗

Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome.Semantic proximity Read ↗

Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.Semantic proximity Read ↗

The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus.Semantic proximity Read ↗

Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families.Semantic proximity Read ↗

Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.Semantic proximity Read ↗

Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.Semantic proximity Read ↗

C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family.Semantic proximity Read ↗

Targeted next-generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation.Semantic proximity Read ↗

A novel FBN1 mutation causes autosomal dominant Marfan syndrome.Semantic proximity Read ↗

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