| dc.contributor.author | OZGUC, M | |
| dc.contributor.author | OZALP, I | |
| dc.contributor.author | COSKUN, T | |
| dc.contributor.author | YILMAZ, E | |
| dc.contributor.author | ERDEM, H | |
| dc.contributor.author | AYTER, S | |
| dc.date.accessioned | 2019-12-12T06:25:30Z | |
| dc.date.available | 2019-12-12T06:25:30Z | |
| dc.date.issued | 1993 | |
| dc.identifier.issn | 0022-2593 | |
| dc.identifier.uri | https://doi.org/10.1136/jmg.30.2.129 | |
| dc.identifier.uri | http://hdl.handle.net/11655/16291 | |
| dc.description.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. | |
| dc.language.iso | en | |
| dc.publisher | British Med Journal Publ Group | |
| dc.relation.isversionof | 10.1136/jmg.30.2.129 | |
| dc.rights | info:eu-repo/semantics/openAccess | |
| dc.subject | Genetics & Heredity | |
| dc.title | Mutation Analysis In Turkish Phenylketonuria Patients | |
| dc.type | info:eu-repo/semantics/article | |
| dc.relation.journal | Journal Of Medical Genetics | |
| dc.contributor.department | Tıbbi Biyoloji | |
| dc.identifier.volume | 30 | |
| dc.identifier.issue | 2 | |
| dc.identifier.startpage | 129 | |
| dc.identifier.endpage | 130 | |
| dc.description.index | WoS | |
