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Molecular studies of the synaptic protein otoferlin

dc.contributor.advisorReisinger, Ellen Dr.
dc.contributor.authorMüller, Alexandra
dc.date.accessioned2017-02-24T10:27:15Z
dc.date.available2017-02-24T10:27:15Z
dc.date.issued2017-02-24
dc.identifier.urihttp://hdl.handle.net/11858/00-1735-0000-0023-3DB5-0
dc.identifier.urihttp://dx.doi.org/10.53846/goediss-6128
dc.identifier.urihttp://dx.doi.org/10.53846/goediss-6128
dc.identifier.urihttp://dx.doi.org/10.53846/goediss-6128
dc.language.isoengde
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject.ddc610de
dc.titleMolecular studies of the synaptic protein otoferlinde
dc.typedoctoralThesisde
dc.contributor.refereeBrose, Nils Prof. Dr.
dc.date.examination2016-04-08
dc.description.abstractengDeafness is an interesting and intensely studied topic and can be caused by different, genetic as well as environmental, factors. One important cause of deafness are mutations in the otoferlin gene leading to non-syndromic deafness DFNB9. Interestingly, some mutations lead to temperature induced hearing loss where patients have normal to impaired hearing when their body temperature is normal but become deaf as soon as they become febrile. Different mutations of otoferlin were analyzed using biolystic transfection, mass spectrometry, real-time PCR and fluorescence microscopy were used.de
dc.contributor.coRefereeDresbach, Thomas Prof. Dr.
dc.contributor.thirdRefereeGöpfert, Martin Prof. Dr.
dc.contributor.thirdRefereeRizzoli, Silvio Prof. Dr.
dc.contributor.thirdRefereeSchmidt, Manuela Dr.
dc.subject.engOtoferlinde
dc.subject.engHearingde
dc.subject.engGene Gunde
dc.subject.engTemperature sensitivityde
dc.subject.engReal-time PCRde
dc.subject.engCloningde
dc.identifier.urnurn:nbn:de:gbv:7-11858/00-1735-0000-0023-3DB5-0-4
dc.affiliation.instituteGöttinger Graduiertenschule für Neurowissenschaften, Biophysik und molekulare Biowissenschaften (GGNB)de
dc.subject.gokfullBiologie (PPN619462639)de
dc.identifier.ppn880905301


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