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Article

A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q.

Molecular vision - 1 Jan 2011

Bennett Thomas M, Shiels Alan

Abstract excerpt

PURPOSE: To map and identify the genetic defect underlying autosomal dominant cataract segregating in a 5-generation Caucasian American family. METHODS: Genomic DNA was prepared from blood leukocytes, genotyping was performed using microsatellite markers, and logarithm of the odds (LOD) scores were calculated using the LINKAGE programs. Mutation profiling was performed using direct exon cycle-sequencing and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21897748
PMCID: PMC3164684

Genes

GJA3

Variants

Provenance

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