title: Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families.
authors: Centro de Biologia Molecular, Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Spain.
authors: B
authors: B
authors: Pérez
authors: L R
authors: LR
authors: Desviat
authors: M J
authors: MJ
authors: García
authors: M
authors: M
authors: Ugarte
mesh_terms: D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn; D015345:Oligonucleotide Probes; D010641:Phenotype; D010649:Phenylalanine / Q000097:blood; D010651:Phenylalanine Hydroxylase / Q000172:deficiency; D010661:Phenylketonurias / Q000235:genetics* / Q000503:physiopathology; D013030:Spain
chemical_list: D015345:Oligonucleotide Probes; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase