## Communicated by Andreas Gal Molecular characteristics of red blood cell (RBC) glucose phosphate isomerase (GPI) deficiency are described in two Spanish patients with chronic nonspherocytic hemolytic anemia. One patient, with residual GPI activity in RBCs of around 7% (GPI-Catalonia), is homozyg
The first stable variant of erythrocyte glucose-phosphate isomerase associated with severe hemolytic anemia
โ Scribed by A. Zanella; C. Izzo; P. Rebulla; L. Perroni; M. Mariani; G. Canestri; G. Sansone; G. Sirchia
- Publisher
- John Wiley and Sons
- Year
- 1980
- Tongue
- English
- Weight
- 591 KB
- Volume
- 9
- Category
- Article
- ISSN
- 0361-8609
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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
## Communicated by Francesco Giannelli DNA sequencing revealed seven different glucose-6-phosphate dehydrogenase (G6PD) mutations in G6PD deficient subjects from 10 Polish families. Among them we found two novel mutations: 679CยฎT (G6PD Radlowo, class 2) and a 1006AยฎG (G6PD Torun, class 1). Variant