Molecular heterogeneity in cystic fibrosis

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dc.authorid0000-0002-7785-2995
dc.contributor.authorAyyıldız Civan, Hasret
dc.contributor.authorSeyhan, Serhat
dc.date.accessioned2020-10-26T08:11:25Z
dc.date.available2020-10-26T08:11:25Z
dc.date.issued2020
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
dc.description.abstractWe aimed to evaluate type, frequency, and variety of pathogenic variants according to clinical and demographic features of children diagnosed with cystic fibrosis (CF). Twenty-five CF patients were evaluated retrospectively. Patients' demographics, physical examination, imaging, laboratory, and molecular pathogenic variant analysis findings were evaluated. Phe508del was the most frequently (33.3%) detected pathogenic variant, followed by point pathogenic variants E92K, 1898 + lGA/7T/7T, and 2789 + 5GA, respectively. Statistically higher rates of pathogenic variants were detected in male patients. The most frequently detected pathogenic variant was Phe508del. The identification of nine additional pathogenic variants of Phe508del revealed the heterogeneous nature of the CF.
dc.identifier.citationAyyıldız Civan, H. ve Seyhan, S. (2020). Molecular heterogeneity in cystic fibrosis. Journal of Pediatric Genetics, 9(3), 171-176. https://dx.doi.org/10.1055/s-0040-1701646
dc.identifier.doi10.1055/s-0040-1701646
dc.identifier.endpage176
dc.identifier.issn2146-4596
dc.identifier.issn2146-460X
dc.identifier.issue3
dc.identifier.startpage171
dc.identifier.urihttps://dx.doi.org/10.1055/s-0040-1701646
dc.identifier.urihttps://hdl.handle.net/20.500.12511/5970
dc.identifier.volume9
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherGeorg Thieme Verlag KG
dc.relation.ispartofJournal of Pediatric Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectCystic Fibrosis Transmembrane Conductance Regulator
dc.subjectCystic Fibrosis
dc.subjectPhe508del
dc.titleMolecular heterogeneity in cystic fibrosis
dc.typeArticle

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