Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria.
Département de Pédiatrie, Hôpital des Enfants-Malades, Paris, France.
P
P
Bénit
F
F
Rey
D
D
Melle
A
A
Munnich
J
J
Rey
D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D004247:DNA / Q000235:genetics; D005091:Exons; D006801:Humans; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology* / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic
D003062:Codon; D004247:DNA; D010651:Phenylalanine Hydroxylase