title: Molecular abnormality of a Japanese glucose-6-phosphate dehydrogenase variant (G6PD Tokyo) associated with hereditary non-spherocytic hemolytic anemia.
abstract: 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.
authors.affiliation: Okinaka Memorial Institute for Medical Research, Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Hirono
authors.forename: H
authors.initials: H
authors.lastname: Fujii
authors.forename: K
authors.initials: K
authors.lastname: Hirono
authors.forename: H
authors.initials: H
authors.lastname: Kanno
authors.forename: S
authors.initials: S
authors.lastname: Miwa
mesh_terms: D000743:Anemia, Hemolytic / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D006801:Humans; D007527:Isoenzymes / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction
chemical_list: D007527:Isoenzymes; D004247:DNA; D005954:Glucosephosphate Dehydrogenase