ⓔノート18-10-2　成人型に多い遺伝子変異

　日本人の成人型ではIle51Thrの遺伝子変異が多い¹⁾．

〔宮嶋裕明〕

■文献

1. Yoshida K, Oshima A, et al: Human beta–galactosidase gene mutations in GM1–gangliosidosis: a common mutation among Japanese adult/chronic cases. Am J Hum Genet, 1991; 49: 435–442.