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	Molecular abnormality of a Japanese glucose-6-phosphate dehydrogenase variant (G6PD Tokyo) associated with hereditary non-spherocytic hemolytic anemia.
Journal	Formal name：Human genetics Abbreviation：Hum Genet ISSN code：0340-6717(Print)0340-6717(Linking)
Volume, Issue, Page	88(3),pp.347-8
Author and coauthor	Hirono A, Fujii H, Hirono K, Kanno H, Miwa S
Publication date	1992/01
Summary	The entire coding sequence of a Japanese class 1 variant (G6PD Tokyo) was amplified by the polymerase chain reaction from genomic DNA. Nucleotide analysis by a direct sequencing technique revealed a unique nucleotide substitution (1246 G to A) in exon 10, which predicts a Glu to Lys substitution at the 416th amino acid. This is another member of a conspicuous mutation cluster surrounding the putative NADP-binding domain.
Document No.	1733837