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