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

[Recurrent N1173K mutation in FBN1 gene in a Chinese family with ectopia lentis].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 1 Aug 2012

Feng Xue-liang, Li Ning-dong, Wang Li-ming, Wang Yu-chuan, Zhao Kan-xing

Abstract excerpt

OBJECTIVE: To study the disease-causing gene mutation in a Chinese family with ectopia lentis. METHODS: The phenotype of each family member in a Chinese family with ectopia lentis was identified by detailed clinical examination. The inheritance mode in this family was ascertained by the pedigree analysis. Linkage analysis was performed by microsatellite markers on chromosome 15 and LOD Score was calculated by...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to DNA Mutational Analysis
Share to Ectopia Lentis

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

Share to Fibrillin-1

Share to Fibrillins

Share to Microfilament Proteins

Share to Pedigree

Source

Identifiers

PMID: 23141514

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Recurrent N1173K mutation in FBN1 gene in a Chinese family with ectopia lentis].PMID 23141514Read ↗

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

A novel FBN1 mutation in a Chinese family with isolated ectopia lentis.Semantic proximity Read ↗

A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.Semantic proximity Read ↗

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

Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.Semantic proximity Read ↗

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

Novel p.G1344E mutation in FBN1 is associated with ectopia lentis.Semantic proximity Read ↗

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

Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis.Semantic proximity Read ↗

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

Mutation spectrum and genotype-phenotype correlations in Chinese congenital ectopia lentis patients.Semantic proximity Read ↗

Clinical and Genetic Landscape of Ectopia Lentis Based on a Cohort of Patients From 156 FamiliesSemantic proximity Read ↗

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