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Article

Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.

Molecular vision - 18 May 2009

Meyer Esther, Rahman Fatimah, Owens Jessica, Pasha Shanaz, Morgan Neil V, Trembath Richard C, Stone Edwin M, Moore Anthony T, Maher Eamonn R

Abstract excerpt

PURPOSE: To identify the molecular basis for autosomal recessively inherited congenital non-syndromic pulverulent cataracts in a consanguineous family with four affected children. METHODS: An autozygosity mapping strategy using high density SNP microarrays and microsatellite markers was employed to detect regions of homozygosity. Subsequently good candidate genes were screened for mutations by direct sequencing....

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Source

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Identifiers

PMID: 19461930
PMCID: PMC2684559

Genes

CRYBB1

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.

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