A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype-Reference-Cited by-同舟云学术

A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype

Published:1998-07 Issue:1 Volume:63 Page:71-79
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Guldberg Per,Rey Françoise,Zschocke Johannes,Romano Valentino,François Baudouin,Michiels Luc,Ullrich Kurt,Hoffmann Georg F.,Burgard Peter,Schmidt Hildgund,Meli Concetta,Riva Enrica,Dianzani Irma,Ponzone Alberto,Rey Jean,Güttler Flemming

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference33 articles.

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4. Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity;Desviat;Am J Hum Genet,1995

5. Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population;Desviat;Eur J Hum Genet,1997

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