Multi-mutational analysis of fifteen common mutations of the glucose 6-phosphate dehydrogenase gene in the Mediterrranean population
✍ Scribed by Ma Esther Farez-Vidal; Sandra Gandia-Pla; Sonia Blanco; Carolina Gómez-Llorente; Jose Antonio Gómez-Capilla
- Book ID
- 116347974
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 430 KB
- Volume
- 395
- Category
- Article
- ISSN
- 0009-8981
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## Communicated by Francesco GianneUi The vast majority of both polymorphic and sporadic G6PD variants are due to single missense mutations. In the four polymorphic variants that have two point mutations, one of the mutations is always 376 A+G (126 A s e A s p ) , which on its own gives rise to th
Glucose-6-phosphate dehydrogenase (G6PD) deficiency has previously been reported among both the black and white populations of Costa Rica. All 28 G6PD A-samples were found to be of the common G6PD A--376G/2~ A previously described mutation associated with nonspherocytic hemolytic anemia, G6PD Puert
## Abstract In Portugal there are a wide variety of G6PD deficiency associated mutations. In an individual from the island of Flores of the Azorean archipelago, we report a new mutation in the G6PD gene that gives rise to a “moderate rate of G6PD deficiency” (12.6% of the normal activity) according