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dc.contributor.authorKocaefe, YC
dc.contributor.authorErdem, S
dc.contributor.authorOzguc, M
dc.contributor.authorTan, E
dc.date.accessioned2019-12-12T06:24:45Z
dc.date.available2019-12-12T06:24:45Z
dc.date.issued2003
dc.identifier.issn1018-4813
dc.identifier.urihttps://doi.org/10.1038/sj.ejhg.5200908
dc.identifier.urihttp://hdl.handle.net/11655/16202
dc.description.abstractMitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare autosomal recessive neurologic disorder characterised by multiple mitochondrial DNA deletions. In this study, five Turkish IVINGIE patients are investigated for mtDNA deletions and TP gene mutations. The probands presented all the clinical criteria of the typical IVINGIE phenotype; the muscle biopsy specimens also confirmed the diagnosis with ragged red fibres and cytochrome C oxidase (COX) negative fibres. The mitochondrial DNA analysis revealed no deletions in the probands' skeletal muscle samples. We have identified four novel mutations in the TP gene while one of the patients also harboured a nucleoticle change, which was previously reported as a mutation.
dc.language.isoen
dc.publisherNature Publishing Group
dc.relation.isversionof10.1038/sj.ejhg.5200908
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectBiochemistry & Molecular Biology
dc.subjectGenetics & Heredity
dc.titleFour Novel Thymidine Phosphorylase Gene Mutations In Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome (Mngie) Patients
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalEuropean Journal Of Human Genetics
dc.contributor.departmentTıbbi Biyoloji
dc.identifier.volume11
dc.identifier.issue1
dc.identifier.startpage102
dc.identifier.endpage104
dc.description.indexWoS
dc.description.indexScopus


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