カンノ　ヒトシ   菅野　仁    所属   医学部 医学科（東京女子医科大学病院）    職種   特任教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	A new glucose-6-phosphate dehydrogenase variant (G6PD Tsukui) associated with congenital hemolytic anemia.
掲載誌名	正式名：Human genetics 略　 称：Hum Genet ISSNコード：0340-6717(Print)0340-6717(Linking)
巻・号・頁	78(4),pp.369-71
著者・共著者	Ogura H, Morisaki T, Tani K, Kanno H, Tsutsumi H, Takahashi K, Miyamori T, Fujii H, Miwa S
発行年月	1988/04
概要	A new glucose-6-phosphate dehydrogenase (G6PD) variant associated with chronic nonspherocytic hemolytic anemia was found in a 20-year-old Japanese male who showed mild hemolysis after an upper respiratory tract infection. The patient had been noted to have jaundice and reticulocytosis several times before this episode. The enzyme activity of the variant was 1.5% of normal. The enzymatic characteristics were slow anodal electrophoretic mobility, high Km G6P, normal Km NADP, decreased heat stability, and a normal pH optimum. From these results, the enzyme was considered to be a new class 1 variant and was designated G6PD Tsukui.
DOI	10.1007/s00439-019-02014-8
文献番号	3360447