dc.contributor.author | Parman, Yesim | |
dc.contributor.author | ATIK, Mehmed M. | |
dc.contributor.author | LUPSKI, James R. | |
dc.contributor.author | Battaloglu, Esra | |
dc.contributor.author | OKAMOTO, Yuji | |
dc.contributor.author | BECK, Christine R. | |
dc.contributor.author | GONZAGA-JAUREGUI, Claudia | |
dc.contributor.author | MUZNY, Donna M. | |
dc.contributor.author | Matur, Zeliha | |
dc.contributor.author | BOONE, Philip M. | |
dc.contributor.author | Akyuz, Kaya | |
dc.contributor.author | GIBBS, Richard A. | |
dc.contributor.author | Goksungur, Meryem Tuba | |
dc.contributor.author | Pehlivan, Davut | |
dc.contributor.author | Bayraktar, Serife | |
dc.contributor.author | CARVALHO, Claudia M. B. | |
dc.date.accessioned | 2021-03-03T12:19:57Z | |
dc.date.available | 2021-03-03T12:19:57Z | |
dc.date.issued | 2014 | |
dc.identifier.citation | 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 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.issn | 1098-3600 | |
dc.identifier.other | av_2d684b2f-abb3-4ebe-8eb4-eb24e1209977 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/35133 | |
dc.identifier.uri | https://doi.org/10.1038/gim.2013.155 | |
dc.description.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. | |
dc.language.iso | eng | |
dc.subject | Temel Bilimler | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.title | Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D | |
dc.type | Makale | |
dc.relation.journal | GENETICS IN MEDICINE | |
dc.contributor.department | Baylor College of Medicine , , | |
dc.identifier.volume | 16 | |
dc.identifier.issue | 5 | |
dc.identifier.startpage | 386 | |
dc.identifier.endpage | 394 | |
dc.contributor.firstauthorID | 24349 | |