A preliminary association study in Turkish population: Do IL-17 and UCP2 gene variants contributes to the ethiology of microtia?

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dc.authorid0000-0002-7129-5024
dc.contributor.authorÖzdilli, Kürşat
dc.contributor.authorBekereçioğlu, Mehmet
dc.contributor.authorPehlivan, Sadice
dc.contributor.authorBüyükgüral, Bülent
dc.date.accessioned10.07.201910:49:13
dc.date.accessioned2019-07-10T20:01:49Z
dc.date.available10.07.201910:49:13
dc.date.available2019-07-10T20:01:49Z
dc.date.issued2017
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.descriptionAnnual Joint Meeting of the American-Society-for-Cell-Biology and the European-Molecular-Biology-Organization (ASCB/EMBO) -- DEC 02-06, 2017 -- Philadelphia, PA
dc.descriptionWOS: 000426664302068
dc.description.abstractCounselling sessions with her family revealed that there were atleast four of her relatives suffering from the same symptoms. We draw a pedigree displaying three generations and consanguinity of the family and carried out a WES analysis to selected. Results revealed that, three severely affected family members had 1-bp insertion in the WNK1 gene and homozygous for the allele. This WNK1 gene was one of the candidate genes for HSAN type 2.
dc.description.sponsorshipAmerican Society for Cell Biologyen_US
dc.description.sponsorshipEuropean Molecular Biology Organization (EMBO)en_US
dc.identifier.citationÖzdilli, K., Bekereçioğlu, M., Pehlivan, S. ve Büyükgüral, B. (2017). A preliminary association study in Turkish population: Do IL-17 and UCP2 Gene variants Contributes to The Ethiology of Microtia? Molecular Biology of the Cell. Philadelphia, USA, December 02-06, 2017.
dc.identifier.issn1059-1524
dc.identifier.issn1939-4586
dc.identifier.urihttps://hdl.handle.net/20.500.12511/3454
dc.identifier.volume28
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.language.isoen
dc.publisherAmerican Society for Cell Biology
dc.relation.ispartofMolecular Biology of the Cellen_US
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectEthiology
dc.subjectResults Revealed
dc.subjectPedigree Displaying
dc.titleA preliminary association study in Turkish population: Do IL-17 and UCP2 gene variants contributes to the ethiology of microtia?
dc.typeConference Object

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