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The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy

dc.contributor.authorMuzny, Donna M.
dc.contributor.authorGoksungur, Meryem Tuba
dc.contributor.authorLupski, James R.
dc.contributor.authorSereda, Michael W.
dc.contributor.authorRautenstrauss, Bernd
dc.contributor.authorWithers, Marjorie A.
dc.contributor.authorCarvalho, Claudia M. B.
dc.contributor.authorCzesnik, Dirk
dc.contributor.authorGonzaga-Jauregui, Claudia
dc.contributor.authorWiszniewski, Wojciech
dc.contributor.authorGibbs, Richard A.
dc.contributor.authorBeck, Christine R.
dc.contributor.authorOkamoto, Yuji
dc.contributor.authorHarel, Tamar
dc.contributor.authorAkdemir, Zeynep H. C.
dc.contributor.authorJhangiani, Shalini N.
dc.contributor.authorPehlivan, Davut
dc.date.accessioned2021-03-04T11:02:09Z
dc.date.available2021-03-04T11:02:09Z
dc.date.issued2016
dc.identifier.citationPehlivan D., Beck C. R. , Okamoto Y., Harel T., Akdemir Z. H. C. , Jhangiani S. N. , Withers M. A. , Goksungur M. T. , Carvalho C. M. B. , Czesnik D., et al., "The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy", GENETICS IN MEDICINE, cilt.18, sa.5, ss.443-451, 2016
dc.identifier.issn1098-3600
dc.identifier.otherav_7048c366-e0a2-460e-a508-c7665ae4970f
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/77411
dc.identifier.urihttps://doi.org/10.1038/gim.2015.124
dc.description.abstractPurpose: Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of genetic disorders of the peripheral nervous system. Copy-number variants (CNVs) contribute significantly to CMT, as duplication of PMP22 underlies the majority of CMT1 cases. We hypothesized that CNVs and/or single-nucleotide variants (SNVs) might exist in patients with CMT with an unknown molecular genetic etiology.
dc.language.isoeng
dc.subjectTıbbi Genetik
dc.subjectTıp
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.titleThe role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy
dc.typeMakale
dc.relation.journalGENETICS IN MEDICINE
dc.contributor.departmentBaylor College of Medicine , ,
dc.identifier.volume18
dc.identifier.issue5
dc.identifier.startpage443
dc.identifier.endpage451
dc.contributor.firstauthorID232311


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