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