## 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
A synonymous mutation of ancient origin in the glucose-6-phosphate dehydrogenase gene and assessment of haplotypes
✍ Scribed by J.ürgen May; Christian G. Meyer
- Book ID
- 117726475
- Publisher
- Elsevier Science
- Year
- 2003
- Tongue
- English
- Weight
- 41 KB
- Volume
- 30
- Category
- Article
- ISSN
- 1079-9796
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## 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
## Abstract In this study, we investigated whether glucose‐6‐phosphate dehydrogenase (G6PD) promoter mutations are responsible for G6PD deficiency. We analysed the G6PD proximal promoter and the 5′ untranslated region (UTR) in 65 G6PD‐deficient individuals, in which no mutations have been found in