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 p.G1344E mutation in FBN1 is associated with ectopia lentis.

The British journal of ophthalmology - 1 Mar 2021

Yang Yuan, Zhou Ya-Li, Yao Teng-Teng, Pan Hui, Gu Ping, Wang Zhao-Yang

Abstract excerpt

BACKGROUND: Ectopia lentis refers to dislocation or subluxation of the crystalline lens. Fibrillin-1, encoded by FBN1, is an important microfibrillar structural component that is specifically required for the suspensory ligament of the lens. FBN1 mutations may cause abnormal structure of microfibrils and has been associated with a broad spectrum of clinical phenotypes. In this study, we characterised a Chinese...

Read the complete abstract on PubMed

Topics

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

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibrillin-1

Share to Genetic Association Studies

Share to Genotype

Share to Pedigree

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 32404357
DOI: 10.1136/bjophthalmol-2019-315265
PMCID: PMC7907564

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

Novel p.G1344E mutation in FBN1 is associated with ectopia lentis.PMID 32404357Read ↗

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

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

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

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

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

Zonule-Associated Gene Variants in Isolated Ectopia Lentis and Glaucoma.Semantic proximity Read ↗

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

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

Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients.Semantic proximity Read ↗

Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies.Semantic proximity Read ↗

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

A novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: a case report and review of the literature.Semantic proximity Read ↗

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