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dc.contributor.authorSharafi, Parisa
dc.contributor.authorAyter, Şükriye
dc.date.accessioned2019-03-21T07:21:14Z
dc.date.available2019-03-21T07:21:14Z
dc.date.issued2018-04-03
dc.identifier.citationSharafi, P., & Ayter, S. (2018). Possible modifier genes in the variation of neurofibromatosis type 1 clinical phenotypes. Journal of neurogenetics, 32(2), 65-77.en_US
dc.identifier.issn01677063
dc.identifier.urihttp://hdl.handle.net/20.500.11851/794
dc.descriptionThis is an original manuscript / preprint of an article published by Taylor & Francis in Journal of Neurogenetics on 12 Apr 2018 available online: https://doi.org/10.1080/01677063.2018.1456538
dc.description.abstractNeurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, caused by mutations in the (NF1) gene. Although NF1 is a single-gene disorder with autosomal-dominant inheritance, its clinical expression is highly variable and unpredictable. NF1 patients have the highest known mutation rate among all human disorders, with no clear genotype–phenotype correlations. Therefore, variations in NF1 mutations may not correlate with the variations in clinical phenotype. Indeed, for the same mutation, some NF1 patients may develop severe clinical symptoms whereas others will develop a mild phenotype. Variations in the mutant NF1 allele itself cannot account for all of the disease variability, indicating a contribution of modifier genes, environmental factors, or their combination. Considering the gene structure and the interaction of neurofibromin protein with cellular components, there are many possible candidate modifier genes. This review aims to provide an overview of the potential modifier genes contributing to NF1 clinical variability.en_US
dc.language.isoengen_US
dc.publisherTaylor and Francis Ltden_US
dc.relation.isversionof10.1080/01677063.2018.1456538en_US
dc.relation.isversionofhttps://www.tandfonline.com/doi/full/10.1080/01677063.2018.1456538
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectNeurofibromatosis type 1en_US
dc.subjectGenotype–phenotype correlationen_US
dc.subjectClinical variabilityen_US
dc.subjectModifier genesen_US
dc.titlePossible modifier genes in the variation of neurofibromatosis type 1 clinical phenotypesen_US
dc.typearticleen_US
dc.description.versioninfo:eu-repo/semantics/submittedVersion
dc.contributor.departmentTOBB ETÜ, Tıp Fakültesi, Temel Tıp Bilimleri Bölümüen_US
dc.contributor.departmentTOBB ETU, Faculty of Medcine, Department of Basic Medical Sciencesen_US
dc.identifier.volume32en_US
dc.identifier.issue2en_US
dc.identifier.startpage65en_US
dc.identifier.endpage77en_US
dc.contributor.orcidhttps://orcid.org/0000-0002-7400-4851
dc.identifier.wosWOS:000434269300002
dc.identifier.scopus2-s2.0-85048232895
dc.contributor.tobbetuauthorSharafi, Parisaen_US
dc.contributor.tobbetuauthorAyter, Şükriye
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı


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