[Identification of a nature of mutation in the 12th exon of phenylalanine hydroxylase gene in patients with phenylketonuria].
Upon amplification in vitro of the 12th exon area of the human phenylalanine hydroxylase gene followed by allele-specific hybridisation of the amplification product with synthetic probes and its sequencing by the Maxam-Gilbert method, a C----T transition causing phenylketonuria has been identified in Latvian patients.
Skriabin
B V
BV
Koval'chuk
L A
LA
Khal'chitskiĭ
S E
SE
Gol'tsov
A A
AA
Kaboev
O K
OK
Plutalov
O V
OV
Berlin
Iu A
IuA
Shvarts
E I
EI
D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology / Q000235:genetics*
D004247:DNA; D010651:Phenylalanine Hydroxylase
Opredelenie prirody mutatsionnogo povrezhdeniia v 12-om ékzone fenilalaningidroksilaznogo gena u bol'nykh fenilketonurieĭ.