Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian kinship with phenylketonuria.
Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.
S
S
Kleiman
J
J
Li
G
G
Schwartz
R C
RC
Eisensmith
S L
SL
Woo
Y
Y
Shiloh
D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005006:Ethnicity; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000172:deficiency / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology / Q000235:genetics*; D016133:Polymerase Chain Reaction
D004247:DNA; D010651:Phenylalanine Hydroxylase