TY  - JOUR
AU  - Aldámiz-Echevarría, Luis
AU  - Llarena, Marta
AU  - Bueno, María A
AU  - Dalmau, Jaime
AU  - Vitoria, Isidro
AU  - Fernández-Marmiesse, Ana
AU  - Andrade, Fernando
AU  - Blasco, Javier
AU  - Alcalde, Carlos
AU  - Gil, David
AU  - García, María C
AU  - González-Lamuño, Domingo
AU  - Ruiz, Mónica
AU  - Ruiz, María A
AU  - Peña-Quintana, Luis
AU  - González, David
AU  - Sánchez-Valverde, Felix
AU  - Desviat, Lourdes R
AU  - Pérez, Belen
AU  - Couce, María L
PY  - 2016
DO  - 10.1038/jhg.2016.38
UR  - http://hdl.handle.net/10668/10033
T2  - Journal of human genetics
AB  - Phenylketonuria (PKU), the most common inborn error of amino acid metabolism, is caused by mutations in the phenylalanine-4-hydroxylase (PAH) gene. This study aimed to assess the genotype-phenotype correlation in the PKU Spanish population and the...
LA  - en
KW  - Alleles
KW  - Enzyme Replacement Therapy
KW  - Gene Frequency
KW  - Genetic Association Studies
KW  - Genetic Heterogeneity
KW  - Genotype
KW  - Humans
KW  - Molecular Epidemiology
KW  - Mutation
KW  - Phenotype
KW  - Phenylalanine Hydroxylase
KW  - Phenylketonurias
KW  - Spain
TI  - Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
TY  - research article
VL  - 61
ER  -