Title : Founder effect of a prevalent phenylketonuria mutation in the Oriental population.

Pub. Date : 1991 Mar 15

PMID : 2006152






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 A missense mutation has been identified in the human phenylalanine hydroxylase [PAH; phenylalanine 4-monooxygenase; L-phenylalanine, tetrahydrobiopterin:oxygen oxidoreductase (4-hydroxylating), EC 1.14.16.1] gene in a Chinese patient with classic phenylketonuria (PKU). p-Aminohippuric Acid phenylalanine hydroxylase Homo sapiens
2 A missense mutation has been identified in the human phenylalanine hydroxylase [PAH; phenylalanine 4-monooxygenase; L-phenylalanine, tetrahydrobiopterin:oxygen oxidoreductase (4-hydroxylating), EC 1.14.16.1] gene in a Chinese patient with classic phenylketonuria (PKU). p-Aminohippuric Acid phenylalanine hydroxylase Homo sapiens