The V388M Mutation Results in a Kinetic Variant Form of Phenylalanine Hydroxylase-Reference-Cited by-同舟云学术

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The V388M Mutation Results in a Kinetic Variant Form of Phenylalanine Hydroxylase

Published:2000-03 Issue:3 Volume:69 Page:204-212
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Leandro Paula,Rivera Isabel,Lechner Maria Celeste,de Almeida Isabel Tavares,Konecki David

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference26 articles.

1. The hyperphenylalaninemias;Scriver,1995

2. Molecular basis of phenotypic heterogeneity in phenylketonuria;Okano;N Engl J Med,1991

3. Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway;Eiken;Eur J Pediatr,1996

4. Population genetics of hyperphenylalaninemia resulting from phenylalanine hydroxylase deficiency in Portugal;Rivera;J Med Genet,1998

5. Analysis of phenylketonuria in South and Central Portugal: Prevalence of V388M mutation;Leandro;Hum Mutat,1995

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