菅野　仁    Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine    Position   Professor (Fixed Term)
Article types	Original article
Language	English
Peer review	Peer reviewed
Title	A new glucose-6-phosphate dehydrogenase variant (G6PD Tsukui) associated with congenital hemolytic anemia.
Journal	Formal name：Human genetics Abbreviation：Hum Genet ISSN code：0340-6717(Print)0340-6717(Linking)
Volume, Issue, Page	78(4),pp.369-71
Author and coauthor	Ogura H, Morisaki T, Tani K, Kanno H, Tsutsumi H, Takahashi K, Miyamori T, Fujii H, Miwa S
Publication date	1988/04
Summary	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
Document No.	3360447