Title : Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients.

Pub. Date : 2020 Apr

PMID : 32331917






1 Functional Relationships(s)
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Sentence
Compound Name
Protein Name
Organism
1 Adenylosuccinate synthase (ADSSL1) is a muscle specific enzyme involved in the purine nucleotide cycle and responsible for the conversion of inosine monophosphate to adenosine monophosphate. Inosine Monophosphate adenylosuccinate synthase 2 Homo sapiens