Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families.
Pérez
B
B
Centro de Biologia Molecular, Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Spain.
Desviat
L R
LR
García
M J
MJ
Ugarte
M
M
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
D015345:Oligonucleotide Probes; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase