A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin. [electronic resource]
Producer: 20061221Description: 1217-22 p. digitalISSN:- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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