Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations-Reference-Cited by-同舟云学术

Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations

Published:1997-12 Issue:6 Volume:61 Page:1309-1317
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Kayaalp Emre,Treacy Eileen,Waters Paula J.,Byck Susan,Nowacki Piotr,Scriver Charles R.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference67 articles.

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3. Studies on phenylketonuria. I. Restriction phenylalanine intake in phenylketonuria;Armstrong;J Clin Invest,1955

4. Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria;Bénit;Hum Mutat,1994

5. Mutation nomenclature: nicknames, systematic names, and unique identifiers;Beutler;Hum Mutat,1996

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