A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference34 articles.
1. Maternal Phenylketonuria and Hyperphenylalaninemia
2. Classic phenylketonuria: Diagnosis through heterozygote detection
3. Determination of Phenylalanine Hydroxylase Activity in Patients with Phenylketonuria and Hyperphenylalaninemia
4. Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria
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1. Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements;American Journal of Medical Genetics Part A;2007
2. Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania;American Journal of Medical Genetics;2003-07-24
3. The Structural Basis of Phenylketonuria;Molecular Genetics and Metabolism;1999-10
4. Structure/function analysis of the domains required for the multimerisation of phenylalanine hydroxylase;Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology;1998-02
5. In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function;Human Mutation;1998
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