Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.
Guldberg
P
P
Danish Center for Human Genome Research, John F. Kennedy Institute, Glostrup.
Henriksen
K F
KF
Thöny
B
B
Blau
N
N
Güttler
F
F
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D004247:DNA / Q000032:analysis; D003718:Denmark; D005091:Exons; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D007438:Introns; D008403:Mass Screening; D010641:Phenotype; D010649:Phenylalanine / Q000378:metabolism*; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000517:prevention & control; D017354:Point Mutation
D003062:Codon; D010649:Phenylalanine; D004247:DNA; D010651:Phenylalanine Hydroxylase