Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

We analyzed correlations between mutant genotypes at the human phenylalanine hydroxylase locus (gene symbol PAH) and the corresponding hyperphenylalaninemia (HPA) phenotypes (notably, phenylketonuria [OMIM 261600]). We used reports, both published and in the PAH Mutation Analysis Consortium Database...

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Hauptverfasser: Kayaalp, E, Treacy, E, Waters, P J, Byck, S, Nowacki, P, Scriver, C R
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1997
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1716084/
https://ncbi.nlm.nih.gov/pubmed/9399896
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