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Molecular abnormality of a Japanese glucose-6-phosphate dehydrogenase variant (G6PD Tokyo) associated with hereditary non-spherocytic hemolytic anemia

✍ Scribed by Akira Hirono; Hisaichi Fujii; Kazue Hirono; Hitoshi Kanno; Shiro Miwa

Publisher: Springer
Year: 1992
Tongue: English
Weight: 213 KB
Volume: 88
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00197272

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✦ Synopsis

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.

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