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

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). A G-to-C transition at the sec...

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Detalhes bibliográficos
Main Authors: Wang, T, Okano, Y, Eisensmith, R C, Harvey, M L, Lo, W H, Huang, S Z, Zeng, Y T, Yuan, L F, Furuyama, J I, Oura, T
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC51186/
https://ncbi.nlm.nih.gov/pubmed/2006152
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