The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy
About this item
Full title
Author / Creator
Pehlivan, Davut , Beck, Christine R. , Okamoto, Yuji , Harel, Tamar , Akdemir, Zeynep H.C. , Jhangiani, Shalini N. , Withers, Marjorie A. , Goksungur, Meryem Tuba , Carvalho, Claudia M.B. , Czesnik, Dirk , Gonzaga-Jauregui, Claudia , Wiszniewski, Wojciech , Muzny, Donna M. , Gibbs, Richard A. , Rautenstrauss, Bernd , Sereda, Michael W. and Lupski, James R.
Publisher
New York: Elsevier Inc
Journal title
Language
English
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Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
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 unkno...
Alternative Titles
Full title
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy
Authors, Artists and Contributors
Author / Creator
Beck, Christine R.
Okamoto, Yuji
Harel, Tamar
Akdemir, Zeynep H.C.
Jhangiani, Shalini N.
Withers, Marjorie A.
Goksungur, Meryem Tuba
Carvalho, Claudia M.B.
Czesnik, Dirk
Gonzaga-Jauregui, Claudia
Wiszniewski, Wojciech
Muzny, Donna M.
Gibbs, Richard A.
Rautenstrauss, Bernd
Sereda, Michael W.
Lupski, James R.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5322766
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5322766
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2015.124
