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

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dc.contributor.authorOkamoto, Yuji
dc.contributor.authorGoksungur, Meryem Tuba
dc.contributor.authorPehlivan, Davut
dc.contributor.authorBeck, Christine R.
dc.contributor.authorGonzaga-Jauregui, Claudia
dc.contributor.authorMuzny, Donna M.
dc.contributor.authorAtik, Mehmed M.
dc.contributor.authorCarvalho, Claudia M. B.
dc.contributor.authorMatur, ZELİHA
dc.contributor.authorBAYRAKTAR, Şerife
dc.contributor.authorBoone, Philip M.
dc.contributor.authorAkyuz, Kaya
dc.contributor.authorGibbs, Richard A.
dc.contributor.authorBattaloglu, Esra
dc.contributor.authorParman, Yesim
dc.contributor.authorLupski, James R.
dc.contributor.institutionauthorMATUR, ZELİHA
dc.date.accessioned2022-01-13T20:59:30Z
dc.date.available2022-01-13T20:59:30Z
dc.date.issued2014-05-01T00:00:00Z
dc.description.abstractPurpose: 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.
dc.identifier.citationOkamoto 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
dc.identifier.doi10.1038/gim.2013.155
dc.identifier.scopus84899928149
dc.identifier.urihttp://hdl.handle.net/20.500.12645/30142
dc.identifier.wosWOS:000335610900005
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titleExonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D
dc.typeArticle
dspace.entity.typePublication
local.avesis.id2d684b2f-abb3-4ebe-8eb4-eb24e1209977
local.indexed.atWOS
local.indexed.atScopus
local.publication.goal03 - Sağlık ve Kaliteli Yaşam
local.publication.isinternational1
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relation.isGoalOfPublication.latestForDiscovery9c198c48-b603-4e2f-8366-04edcfc1224c

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