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Erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease

✍ Scribed by Patricia N. Konrad; Dennis J. McCarthy; Alvin M. Mauer; William N. Valentine; Donlad E. Paglia


Book ID
118537376
Publisher
Elsevier Science
Year
1973
Tongue
English
Weight
341 KB
Volume
82
Category
Article
ISSN
1097-6833

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## Abstract The X‐linked 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,