A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia.

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Guldberg P, Lou HC, Henriksen KF, Mikkelsen I, Olsen B, Holck B, Guttler F

A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia.

Hum Mol Genet. 1993 Jul;2(7):1061-2.

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8364546 [ View in PubMed
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Polypeptides
NameUniProt ID
Phenylalanine-4-hydroxylaseP00439Details