Associated Papers
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
Aldámiz-Echevarría L et al.
Journal of Human Genetics, 2016
Molecular genetics and diagnosis of phenylketonuria: state of the art.
Blau N et al.
Expert Review of Molecular Diagnostics, 2014
Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.
Bueno MA et al.
Journal of Human Genetics, 2013
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.
Nowacki PM et al.
Nucleic Acids Research, 1998
Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.
van der Sijs-Bos CJ et al.
Human Heredity, 0
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