Recurrent mutation in the human phenylalanine hydroxylase gene.

We report the identification of a missense mutation of Glu280 to Lys280 in the phenylalanine hydroxylase (PAH) gene of a phenylketonuria (PKU) patient in Denmark. The mutation is associated with haplotype 1 of the PAH gene in this population. This mutation has previously been found in North Africa,...

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Hlavní autoři: Okano, Y, Wang, T, Eisensmith, R C, Güttler, F, Woo, S L
Médium: Artigo
Jazyk:Inglês
Vydáno: 1990
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683594/
https://ncbi.nlm.nih.gov/pubmed/1971144
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