## 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 βmoderate rate of G6PD deficiencyβ (12.6% of the normal activity) according
A novel R198H mutation in the glucose-6-phosphate dehydrogenase gene in the tribal groups of the Nilgiris in Southern India
β Scribed by R. Chalvam; P. S. Kedar; R. B. Colah; K. Ghosh; M. B. Mukherjee
- Book ID
- 106252272
- Publisher
- Nature Publishing Group
- Year
- 2007
- Tongue
- English
- Weight
- 247 KB
- Volume
- 53
- Category
- Article
- ISSN
- 1435-232X
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More than 80 variants of glucose-6-phosphate dehydrogenase (G6PD) are associated with chronic nonspherocytic haemolytic anaemia (CNSHA); however, the molecular basis of this association is not fully understood. We have used the polymerase chain reaction and nucleotide sequence analysis to characteri
## Abstract In this study, we investigated whether glucoseβ6βphosphate dehydrogenase (G6PD) promoter mutations are responsible for G6PD deficiency. We analysed the G6PD proximal promoter and the 5β² untranslated region (UTR) in 65 G6PDβdeficient individuals, in which no mutations have been found in