Predicted Effects of Missense Mutations on Native-State Stability Account for Phenotypic Outcome in Phenylketonuria, a Paradigm of Misfolding Diseases

Author:

Pey Angel L.,Stricher François,Serrano Luis,Martinez Aurora

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference102 articles.

1. The hyperphenylalaninemias in man and mouse;Scriver;Annu Rev Genet,1994

2. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency;Scriver,2001

3. Genotype/phenotype correlations in phenylalanine hydroxylase deficiency;Güttler,2006

4. How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression;Waters;Hum Mutat,2003

5. PAHdb 2003: what a locus-specific knowledgebase can do;Scriver;Hum Mutat,2003

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