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	Molecular abnormality of a Japanese glucose-6-phosphate dehydrogenase variant (G6PD Tokyo) associated with hereditary non-spherocytic 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	88(3),pp.347-8
著者・共著者	Hirono A, Fujii H, Hirono K, Kanno H, Miwa S
発行年月	1992/01
概要	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.
文献番号	1733837