カンノ ヒトシ
KAN'NO Hitoshi
菅野 仁 所属 医学部 医学科 職種 特任教授 |
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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 |