Publication: Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D
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Date
2014-05-01T00:00:00Z
Authors
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Okamoto, Yuji
Goksungur, Meryem Tuba
Pehlivan, Davut
Beck, Christine R.
Gonzaga-Jauregui, Claudia
Muzny, Donna M.
Atik, Mehmed M.
Carvalho, Claudia M. B.
Matur, ZELİHA
BAYRAKTAR, Şerife
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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.
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Okamoto Y., Goksungur M. T. , Pehlivan D., Beck C. R. , Gonzaga-Jauregui C., Muzny D. M. , Atik M. M. , Carvalho C. M. B. , Matur Z., BAYRAKTAR Ş., et al., -Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D-, GENETICS IN MEDICINE, cilt.16, sa.5, ss.386-394, 2014