AMPD1

AcronymDefinition
AMPD1Adenosine Monophosphate Deaminase 1
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The homozygous nonsense mutation c.34C>T in the AMPD1 gene (OMIM 102770) leads to a catalytically inactive AMPD.
Included were 29 individuals with known AMPD1 genotype: TT (n=6), CT (n=15), CC (n=8).
AMP deaminase deficiency does not affect glycolytic capacity in skeletal muscle during standardized ischemic forearm exercise test
Wessels et al11 established a model for predicting MTX efficacy in RA patients which consisted of sex, rheumatoid factor and smoking status, the DAS, and 4 polymorphisms in the AMPD1, ATIC, ITPA, and MTHFD1 genes.
Towards personalized medicine--the role of methotrexate
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