Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian kinship with phenylketonuria.
Kleiman
S
S
Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.
Li
J
J
Schwartz
G
G
Eisensmith
R C
RC
Woo
S L
SL
Shiloh
Y
Y
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