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Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing

dc.contributor.authorTournev, Ivailo
dc.contributor.authorJordanova, Albena
dc.contributor.authorTopaloglu, Haluk
dc.contributor.authorBATTALOĞLU, ESRA
dc.contributor.authorEstrada-Cuzcano, Alejandro
dc.contributor.authorParma, Yesim
dc.contributor.authorKancheva, Daliya
dc.contributor.authorAtkinson, Derek
dc.contributor.authorDe Rijk, Peter
dc.contributor.authorZimon, Magdalena
dc.contributor.authorChamova, Teodora
dc.contributor.authorMitev, Vanyo
dc.contributor.authorYARAMIŞ, AHMET
dc.contributor.authorFabrizi, Gian Maria
dc.date.accessioned2021-03-03T20:40:04Z
dc.date.available2021-03-03T20:40:04Z
dc.date.issued2016
dc.identifier.citationKancheva D., Atkinson D., De Rijk P., Zimon M., Chamova T., Mitev V., YARAMIŞ A., Fabrizi G. M. , Topaloglu H., Tournev I., et al., "Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing", GENETICS IN MEDICINE, cilt.18, sa.6, ss.600-607, 2016
dc.identifier.issn1098-3600
dc.identifier.othervv_1032021
dc.identifier.otherav_5b22a544-2d9a-4e3a-8754-e989c23f7db8
dc.identifier.urihttp://hdl.handle.net/20.500.12627/63990
dc.identifier.urihttps://doi.org/10.1038/gim.2015.139
dc.description.abstractPurpose: Homozygosity mapping is an effective approach for detecting molecular defects in consanguineous families by delineating stretches of genomic DNA that are identical by descent. Constant developments in next-generation sequencing created possibilities to combine whole-exome sequencing (WES) and homozygosity Mapping in a single step.
dc.language.isoeng
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.subjectYaşam Bilimleri
dc.titleNovel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing
dc.typeMakale
dc.relation.journalGENETICS IN MEDICINE
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume18
dc.identifier.issue6
dc.identifier.startpage600
dc.identifier.endpage607
dc.contributor.firstauthorID233140


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