Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D
Tarih
2014Yazar
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.
Üst veri
Tüm öğe kaydını gösterÖzet
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.
Koleksiyonlar
- Makale [92796]