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Article

Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.

Investigative ophthalmology & visual science - 1 Jun 2005

Riazuddin S Amer, Yasmeen Afshan, Yao Wenliang, Sergeev Yuri V, Zhang Qingjiong, Zulfiqar Fareeha, Riaz Assad, Riazuddin Sheikh, Hejtmancik J Fielding

Abstract excerpt

PURPOSE: To identify the disease locus for autosomal recessive congenital cataracts in consanguineous Pakistani families. METHODS: Two Pakistani families were ascertained, patients were examined, blood samples were collected, and DNA was isolated. A genome-wide scan was performed using >382 polymorphic microsatellite markers on genomic DNA from affected and unaffected family members. Two-point lod scores were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15914629
DOI: 10.1167/iovs.04-1481

Genes

CRYBB3
CRYBA4
CRYBB1
CRYBB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.PMID 15914629Read ↗

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Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity ScreeningSemantic proximity Read ↗

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

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