## 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,
β¦ LIBER β¦
Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency
β Scribed by Seiichi Tsujino; Sara Shanske; Salvatore DiMauro
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 398 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0148-639X
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