Title : Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia.

Pub. Date : 1999 Dec

PMID : 10585341






2 Functional Relationships(s)
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Protein Name
Organism
1 BACKGROUND: Deficiency of 6-pyruvoyltetrahydropterin synthase (PTPS) is a recessively inherited disorder that leads to depletion of 5,6,7, 8-tetrahydrobiopterin, the obligatory cofactor for hydroxylation of phenylalanine, tyrosine, and tryptophan. Tyrosine 6-pyruvoyltetrahydropterin synthase Homo sapiens
2 BACKGROUND: Deficiency of 6-pyruvoyltetrahydropterin synthase (PTPS) is a recessively inherited disorder that leads to depletion of 5,6,7, 8-tetrahydrobiopterin, the obligatory cofactor for hydroxylation of phenylalanine, tyrosine, and tryptophan. Tyrosine 6-pyruvoyltetrahydropterin synthase Homo sapiens