Article
OCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and Korean.
Pigment cell research - 1 Oct 2005
Inagaki Katsuhiko, Suzuki Tamio, Ito Shiro, Suzuki Noriyuki, Fukai Kazuyoshi, Horiuchi Toshiyuki, Tanaka Toshihiko, Manabe Etsuko, Tomita Yasushi
Abstract excerpt
Oculocutaneous albinism type 4 (OCA4) was identified as a rare form of human OCA among a group of autosomal recessive hypopigmentary disorders. Little is known about the prevailing distribution of patients of OCA4 with mutations of the MATP gene, although one Turkish, five German, one Korean, and 18 Japanese patients have been reported so far. The p.D157N mutation was previously reported to be the most frequent...
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