A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia.
Guldberg
P
P
Danish Center for Human Genome Research, John F. Kennedy Institute, Glostrup, Denmark.
Lou
H C
HC
Henriksen
K F
KF
Mikkelsen
I
I
Olsen
B
B
Holck
B
B
Güttler
F
F
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D003241:Consanguinity; D004247:DNA / Q000235:genetics; D005091:Exons; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010649:Phenylalanine / Q000097:blood*; D010651:Phenylalanine Hydroxylase / Q000172:deficiency / Q000235:genetics*; D017354:Point Mutation
D010649:Phenylalanine; D004247:DNA; D010651:Phenylalanine Hydroxylase