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

Yuji Okamoto | Zendy; Meryem Tuba Goksungur | Zendy; Davut Pehli̇van | Zendy; Christine R. Beck | Zendy; Claudia GonzagaJauregui | Zendy; Donna M. Muzny | Zendy; Mehmed M. Atik | Zendy; Claudia M.B. Carvalho | Zendy; Zeliha Matur | Zendy; Şerife Bayraktar | Zendy; Philip M. Boone | Zendy; Kaya Akyüz | Zendy; Richard A. Gibbs | Zendy; Esra Battaloğlu | Zendy; Yeşim Parman | Zendy; James R. Lupski | Zendy

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

Author(s) -

Yuji Okamoto,

Meryem Tuba Goksungur,

Davut Pehli̇van,

Christine R. Beck,

Claudia GonzagaJauregui,

Donna M. Muzny,

Mehmed M. Atik,

Claudia M.B. Carvalho,

Zeliha Matur,

Şerife Bayraktar,

Philip M. Boone,

Kaya Akyüz,

Richard A. Gibbs,

Esra Battaloğlu,

Yeşim Parman,

James R. Lupski

Publication year - 2013

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2013.155

Subject(s) - copy number variation , gene duplication , comparative genomic hybridization , genetics , biology , gene , gene dosage , breakpoint , exon , copy number analysis , genome , chromosome , gene expression

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 1.4 Mb duplication copy-number variation as the cause of their neuropathy. However, non-CMT1A neuropathy patients rarely have causative copy-number variations, and to date, autosomal-recessive disease has not been associated with copy-number variation as a mutational mechanism.

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