Mutation analysis in hyperphenylalaninemia patients from South Italy-Reference-Cited by-同舟云学术

Mutation analysis in hyperphenylalaninemia patients from South Italy

Published:2013-12 Issue:18 Volume:46 Page:1896-1898
ISSN:0009-9120
Container-title:Clinical Biochemistry
language:en
Short-container-title:Clinical Biochemistry

Author:

Trunzo Roberta,Santacroce Rosa,D'Andrea Giovanna,Longo Vittoria,De Girolamo Giuseppe,Dimatteo Claudia,Leccese Angelica,Lillo Vincenza,Papadia Francesco,Margaglione Maurizio

Publisher

Elsevier BV

Subject

Clinical Biochemistry,General Medicine

Reference4 articles.

1. Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations;Daniele;Ann Hum Genet,2007

2. A single origin of phenylketonuria in Yemenite Jews;Avigad;Nature,1990

3. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype;Guldberg;Am J Hum Genet,1998

4. Genotype–phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene;Bercovich;J Hum Genet,2008

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