Phosphoglycerate kinase deficiency: Another cause of recurrent myoglobinuria
β Scribed by Salvatore DiMauro; Marinos Dalakas; Armand F. Miranda
- Publisher
- John Wiley and Sons
- Year
- 1983
- Tongue
- English
- Weight
- 879 KB
- Volume
- 13
- Category
- Article
- ISSN
- 0364-5134
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## Abstract The Xβlinked recessive disease phosphoglycerate kinase (PGK) deficiency is caused by altered expression of the PGK1 enzyme, which causes muscle stiffness, hemolytic anemia, and mental retardation. In this study we characterized the __PGK1__ gene in a family of two brothers, two sisters,
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