Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

Date
2014
Author
Parman, Yesim
ATIK, Mehmed M.
LUPSKI, James R.
Battaloglu, Esra
OKAMOTO, Yuji
BECK, Christine R.
GONZAGA-JAUREGUI, Claudia
MUZNY, Donna M.
Matur, Zeliha
BOONE, Philip M.
Akyuz, Kaya
GIBBS, Richard A.
Goksungur, Meryem Tuba
Pehlivan, Davut
Bayraktar, Serife
CARVALHO, Claudia M. B.
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Abstract
Purpose: Copy-number variations as a mutational mechanism contribute significantly to human disease. Approximately one-half of the patients with Charcot-Marie-Tooth (CMT) disease have a 1.4Mb duplication copy-number variation as the cause of their neuropathy. However, non-CMTIA neuropathy patients rarely have causative copy-number variations, and to date, autosomal-recessive CMT disease has not been associated with copy-number Variation as a mutational mechanism.
URI
http://hdl.handle.net/20.500.12627/35133
https://doi.org/10.1038/gim.2013.155
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