Article
Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.
Biochemical and biophysical research communications - 7 Jun 2002
Ueyama Hisao, Kuwayama Shigeki, Imai Hiroo, Tanabe Shoko, Oda Sanae, Nishida Yasuhiro, Wada Akimori, Shichida Yoshinori, Yamade Shinichi
Abstract excerpt
The DNAs from 217 Japanese males with congenital red/green color-vision deficiencies were analyzed. Twenty-three subjects had the normal genotype of a single red gene, followed by a green gene. Four of the 23 were from the 69 protan subject group and 19 of the 23 were from the 148 deutan subject group. Three of the 23 subjects had missense mutations. The mutation Asn94Lys (AAC-->AAA) occurred in the single green...
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