A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family. [electronic resource]
Producer: 20110908Description: 1070-3 p. digitalISSN:- 1090-0535
- Amino Acid Sequence
- Asian People -- genetics
- Asparagine -- genetics
- Aspartic Acid -- genetics
- Base Sequence
- Cataract -- congenital
- Chromosomes, Human, Pair 13 -- chemistry
- Connexins -- genetics
- Female
- Genes, Dominant
- Genetic Linkage
- Genotype
- Haplotypes
- Humans
- Lens, Crystalline -- metabolism
- Lod Score
- Male
- Microsatellite Repeats
- Molecular Sequence Data
- Mutation, Missense
- Pedigree
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Publication Type: Journal Article
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