A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin.

Vanita, Vanita

A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin. [electronic resource] - Molecular vision Oct 2006 - 1217-22 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1090-0535


Asian People--genetics
Base Sequence
Cataract--congenital
Child
Connexins--genetics
Cytosine
DNA Mutational Analysis
Eye Proteins--genetics
Female
Genes, Dominant
Genetic Linkage
Genotype
Guanine
Haplotypes
Heterozygote
Humans
India
Leucine
Male
Molecular Sequence Data
Mutation
Phenotype
Protein Structure, Tertiary
Transcription Initiation Site
Valine