Phenylalanine hydroxylase deficiency in the Slovak population: Genotype–phenotype correlations and genotype-based predictions of BH4-responsiveness
Author:
Funder
ERDF
Comenius University
313/2009
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference40 articles.
1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010
2. Single exon deletions in the PAH gene in Polish PKU-patients;Bik-Multanowski;Mol. Genet. Metab.,2008
3. Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria;Blau;Mol. Genet. Metab.,2009
4. Phenylketonuria;Blau;Lancet,2010
5. Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics;Cali;Exp. Mol. Med.,2010
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