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

Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.

Molecular vision - 30 Jul 2009

Mothobi Maneo Emily, Guo Shuren, Liu Yuanyuan, Chen Qiang, Yussuf Ali Said, Zhu Xinli, Fang Zheng

Abstract excerpt

PURPOSE: To identify the causative genetic mutation among the known cataract candidate genes underlying the observed phenotype in a Basotho family, with congenital nuclear cataracts. METHODS: Because of the small family size, we used the functional candidate gene analysis approach. We screened a Basotho family, clinically documented to have congenital nuclear cataracts, for mutation in the candidate genes CRYG (C...

Read the complete abstract on PubMed

Topics

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

Share to Black People
Share to Cataract
Share to Computational Biology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Family

Share to Models, Molecular

Share to Mutant Proteins

Share to Mutation, Missense

Source

Open in PubMed Open full text

Identifiers

PMID: 19649175
PMCID: PMC2718852

Genes

CRYBB2
GJA8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.PMID 19649175Read ↗

Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.Semantic proximity Read ↗

A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.Semantic proximity Read ↗

Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene.Semantic proximity Read ↗

Missense Mutations in CRYAB Are Liable for Recessive Congenital CataractsSemantic proximity Read ↗

Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.Semantic proximity Read ↗

Identification of a De Novo 3bp Deletion in CRYBA1/A3 Gene in Autosomal Dominant Congenital Cataract.Semantic proximity Read ↗

A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataractSemantic proximity Read ↗

Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family.Semantic proximity Read ↗

A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family.Semantic proximity Read ↗

A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family.Semantic proximity Read ↗

The genetic landscape of crystallins in congenital cataractSemantic proximity Read ↗

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.Semantic proximity Read ↗

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