Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.
Guldberg
P
P
Danish Center for Human Genome Research, John F. Kennedy Institute, Glostrup, Denmark.
Mallmann
R
R
Henriksen
K F
KF
Güttler
F
F
D000483:Alleles; D017398:Alternative Splicing; D002648:Child; D005091:Exons; D005190:Family; D016368:Frameshift Mutation; D005858:Germany; D006801:Humans; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000096:biosynthesis / Q000172:deficiency* / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
D010651:Phenylalanine Hydroxylase