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Published in 2020 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2020.02.006
Abstract: 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. Since 2016, when mutations in the ADSSL1 gene were first…
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Keywords:
expanding disease;
muscle;
adssl1 associated;
phenotype adssl1 ... See more keywords