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

dc.contributor.authorParman, Yesim
dc.contributor.authorATIK, Mehmed M.
dc.contributor.authorLUPSKI, James R.
dc.contributor.authorBattaloglu, Esra
dc.contributor.authorOKAMOTO, Yuji
dc.contributor.authorBECK, Christine R.
dc.contributor.authorGONZAGA-JAUREGUI, Claudia
dc.contributor.authorMUZNY, Donna M.
dc.contributor.authorMatur, Zeliha
dc.contributor.authorBOONE, Philip M.
dc.contributor.authorAkyuz, Kaya
dc.contributor.authorGIBBS, Richard A.
dc.contributor.authorGoksungur, Meryem Tuba
dc.contributor.authorPehlivan, Davut
dc.contributor.authorBayraktar, Serife
dc.contributor.authorCARVALHO, Claudia M. B.
dc.date.accessioned2021-03-03T12:19:57Z
dc.date.available2021-03-03T12:19:57Z
dc.date.issued2014
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 S., 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.issn1098-3600
dc.identifier.otherav_2d684b2f-abb3-4ebe-8eb4-eb24e1209977
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/35133
dc.identifier.urihttps://doi.org/10.1038/gim.2013.155
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.language.isoeng
dc.subjectTemel Bilimler
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.titleExonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D
dc.typeMakale
dc.relation.journalGENETICS IN MEDICINE
dc.contributor.departmentBaylor College of Medicine , ,
dc.identifier.volume16
dc.identifier.issue5
dc.identifier.startpage386
dc.identifier.endpage394
dc.contributor.firstauthorID24349


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