Mutation analysis in Turkish phenylketonuria patients. |
| |
| Authors: | M Ozgü? I Ozalp T Co?kun E Yilmaz H Erdem S Ayter |
| |
| Affiliation: | Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey. |
| |
| Abstract: | 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. |
| |
| Keywords: | |
|
|
