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dc.contributor.authorOZGUC, M
dc.contributor.authorOZALP, I
dc.contributor.authorCOSKUN, T
dc.contributor.authorYILMAZ, E
dc.contributor.authorERDEM, H
dc.contributor.authorAYTER, S
dc.date.accessioned2019-12-12T06:25:30Z
dc.date.available2019-12-12T06:25:30Z
dc.date.issued1993
dc.identifier.issn0022-2593
dc.identifier.urihttps://doi.org/10.1136/jmg.30.2.129
dc.identifier.urihttp://hdl.handle.net/11655/16291
dc.description.abstractForty-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.isoen
dc.publisherBritish Med Journal Publ Group
dc.relation.isversionof10.1136/jmg.30.2.129
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectGenetics & Heredity
dc.titleMutation Analysis In Turkish Phenylketonuria Patients
dc.typeinfo:eu-repo/semantics/article
dc.relation.journalJournal Of Medical Genetics
dc.contributor.departmentTıbbi Biyoloji
dc.identifier.volume30
dc.identifier.issue2
dc.identifier.startpage129
dc.identifier.endpage130
dc.description.indexWoS


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