Mutation analysis in Turkish phenylketonuria patients.
Forty-four classical PKU patients have been screened for various mutations. The newly identified IVS 10 splicing mutation was found in 32% of the mutant alleles and comprises 74.5% of the mutations that could be typed: 261arg-gln (6.8%), 158arg-gly (2.3%), 252arg-trp (1.1%), 280glu-lys (-), and 272gly-stop (-) were the other mutations that were screened.
Ozgüç
M
M
Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Ozalp
I
I
Coşkun
T
T
Yilmaz
E
E
Erdem
H
H
Ayter
S
S
D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn; D007438:Introns; D008969:Molecular Sequence Data; D010661:Phenylketonurias / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012326:RNA Splicing; D014421:Turkey
D004247:DNA