Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity.
Istituto di Clinica Pediatrica, Torino, Italy.
I
I
Dianzani
P M
PM
Knappskog
L
L
de Sanctis
S
S
Giannattasio
E
E
Riva
A
A
Ponzone
J
J
Apold
C
C
Camaschella
D001483:Base Sequence; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics*
D010651:Phenylalanine Hydroxylase