Molecular basis of non-PKU hyperphenylalaninaemia in Spain: prevalence of A403V, a mutation with high residual activity.
Desviat
L R
LR
Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Spain.
Pérez
B
B
Ugarte
M
M
D002460:Cell Line; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010649:Phenylalanine / Q000097:blood*; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D013030:Spain
D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase