Mapping the functional landscape of frequentphenylalanine hydroxylase(PAH) genotypes promotes personalised medicine in phenylketonuria
Author:
Publisher
BMJ
Subject
Genetics (clinical),Genetics
Reference42 articles.
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2. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency;Donlon,2008
3. Phenylketonuria;Blau;Lancet,2010
4. Phenylketonuria mutations in Europe;Zschocke;Hum Mutat,2003
5. In vitro expression of 34 naturally occurring mutant variants of phenylalanine hydroxylase: correlation with metabolic phenotypes and susceptibility toward protein aggregation;Gjetting;Mol Genet Metab,2001
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