[Mutation in the structure of exon 7 of the phenylalanine hydroxylase in phenylketonuria patients from the Novosibirsk area].
The spectrum and frequency of mutations of exon 7 of the gene for phenylalanine hydroxylase (PAH) were studied in 34 phenylketonuria (PKU) patients living in Novosibirsk oblast. The five most prevalent mutations constituted 17.64% of defective alleles: R243Q (1.47%), R252W (1.47%), R261Q (5.88%), E280K (1.47%), and P281L (7.35%). A neutral polymorphic locus V245V was found within exon 7.
Smagulova
F O
FO
Novosibirsk Institute of Bioorganic Chemistry, Russian Academy of Sciences, Novosibirsk, Russia. fatimas@niboch.nsc.ru
Maslennikov
A B
AB
Morozov
I V
IV
Kitaĭnik
G P
GP
D005091:Exons; D006801:Humans; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D011110:Polymorphism, Genetic; D012800:Siberia
D010651:Phenylalanine Hydroxylase