Title : Mitochondrial Neurogastrointestinal Encephalomyopathy Disease in Three Siblings from Pakistan with a Novel Mutation.

Pub. Date : 2019 Mar

PMID : 30775048






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Mutations in TYMP lead to very low TP catalytic activity, resulting in dramatically increased thymidine and deoxyuridine in plasma. Thymidine thymidine phosphorylase Homo sapiens