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The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.

The glycolytic enzyme phosphoglycerate mutase (PGAM) is a dimer, and mature human skeletal muscle contains almost exclusively the MM form of the enzyme, PGAM-M. In 1981, we identified a patient with PGAM-M deficiency, and three additional patients have since been described. All presented with exerci...

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Hlavní autoři: Tsujino, S, Shanske, S, Sakoda, S, Fenichel, G, DiMauro, S
Médium: Artigo
Jazyk:Inglês
Vydáno: 1993
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682163/
https://ncbi.nlm.nih.gov/pubmed/8447317
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