dc.contributor.author | Nelis, E | |
dc.contributor.author | Parman, Y | |
dc.contributor.author | Patitucci, A | |
dc.contributor.author | Zappia, M | |
dc.contributor.author | Vance, JM | |
dc.contributor.author | Zuchner, S | |
dc.contributor.author | Mersiyanova, IV | |
dc.contributor.author | Muglia, M | |
dc.contributor.author | Bissar-Tadmouri, N | |
dc.contributor.author | Rochelle, J | |
dc.contributor.author | Dadali, EL | |
dc.contributor.author | Schroder, JM | |
dc.contributor.author | Timmerman, V | |
dc.contributor.author | Polyakov, AV | |
dc.contributor.author | Battologlu, E | |
dc.contributor.author | Quattrone, A | |
dc.contributor.author | Pericak-Vance, MA | |
dc.contributor.author | Tsuji, S | |
dc.contributor.author | Takahashi, Y | |
dc.contributor.author | De Jonghe, P | |
dc.contributor.author | Evgrafov, O | |
dc.contributor.author | Senderek, J | |
dc.date.accessioned | 2021-03-04T19:12:59Z | |
dc.date.available | 2021-03-04T19:12:59Z | |
dc.date.issued | 2004 | |
dc.identifier.citation | Zuchner S., Mersiyanova I., Muglia M., Bissar-Tadmouri N., Rochelle J., Dadali E., Zappia M., Nelis E., Patitucci A., Senderek J., et al., "Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A", NATURE GENETICS, cilt.36, ss.449-451, 2004 | |
dc.identifier.issn | 1061-4036 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_8ea3a251-8253-45ca-a5ae-5e75e4a72a7a | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/96371 | |
dc.identifier.uri | https://doi.org/10.1038/ng1341 | |
dc.description.abstract | We report missense mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) in seven large pedigrees affected with Charcot-Marie-Tooth neuropathy type 2A (CMT2A). Although a mutation in kinesin family member 1B-beta (KIF1B) was associated with CMT2A in a single Japanese family, we found no mutations in KIF1B in these seven families. Because these families include all published pedigrees with CMT2A and are ethnically diverse, we conclude that the primary gene mutated in CMT2A is MFN2. | |
dc.language.iso | eng | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Temel Bilimler | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Tıp | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.title | Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A | |
dc.type | Makale | |
dc.relation.journal | NATURE GENETICS | |
dc.contributor.department | , , | |
dc.identifier.volume | 36 | |
dc.identifier.issue | 5 | |
dc.identifier.startpage | 449 | |
dc.identifier.endpage | 451 | |
dc.contributor.firstauthorID | 171647 | |