菅野 仁
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Professor (Fixed Term) |
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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 |