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

A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract

1 Nov 2003

Abstract excerpt

Cataract results from a loss in transparency of the crystalline lens. Worldwide, there are an estimated 20 million people blind (Snellen visual acuity of 3/60 or less) as a result of cataract.1 Despite effective surgical treatment, demand outstrips supply in both Western and developing countries, for many reasons,2,3 and other disease modifying strategies must be considered. A strong genetic predisposition to the...

Read the complete abstract on PubMed

Topics

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

Share to Connexins and lens biology
Share to Intraocular Surgery and Lenses
Share to Yersinia bacterium, plague, ectoparasites research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 14627691
DOI: 10.1136/jmg.40.11.e124

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataractPMID 14627691Read ↗

A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.Semantic proximity Read ↗

Identification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract.Semantic proximity Read ↗

A novel mutation in the connexin 50 gene (GJA8) associated with autosomal dominant congenital nuclear cataract in a Chinese family.Semantic proximity Read ↗

A Missense Mutation in GJA8 Encoding Connexin 50 in a Chinese Pedigree with Autosomal Dominant Congenital Cataract.Semantic proximity Read ↗

Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.Semantic proximity Read ↗

A novel GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract.Semantic proximity Read ↗

A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.Semantic proximity Read ↗

Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.Semantic proximity Read ↗

Identification of GJA3 p.S50P Mutation in a Chinese Family with Autosomal Dominant Congenital Cataract and Its Underlying Pathogenesis.Semantic proximity Read ↗

Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.Semantic proximity Read ↗

Identification of a Novel GJA8 (Cx50) Point Mutation Causes Human Dominant Congenital CataractsSemantic proximity Read ↗

Mutational spectrum in a Chinese cohort with congenital cataracts.Semantic proximity Read ↗

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