| Title: | Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2 |
Authors: | Cottenie, Ellen; Kochanski, Andrzej; Jordanova, Albena; Bansagi, Boglarka; Zimon, Magdalena; Horga, Alejandro; Jaunmuktane, Zane; Saveri, Paola; Rasic, Vedrana Milic; Baets, Jonathan;
Bartsakoulia, Marina; Ploski, Rafal; Teterycz, Pawel; Nikolić, Miloš   ; Quinlivan, Ros; Laura, Matilde; Sweeney, Mary G.; Taroni, Franco; Lunn, Michael P.; Moroni, Isabella; Gonzalez, Michael; Hanna, Michael G.; Bettencourt, Conceicao; Chabrol, Elodie; Franke, Andre; von Au, Katja; Schilhabel, Markus; Kabzińska, Dagmara; Hausmanowa-Petrusewicz, Irena; Brandner, Sebastian; Lim, Siew Choo; Song, Haiwei; Choi, Byung-Ok; Horvath, Rita; Chung, Ki-Wha; Zuchner, Stephan; Pareyson, Davide; Harms, Matthew; Reilly, Mary M.; Houlden, Henry;
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Issue Date: | 2014 |
Publication: | The American Journal of Human Genetics |
ISSN: | 0002-9297 American Journal of Human Genetics Search Idenfier |
Type: | Article |
Collation: | vol. 95 br. 5 str. 590-601 |
DOI: | 10.1016/j.ajhg.2014.10.002 |
WoS-ID: | 000344845000010 |
Scopus-ID: | 2-s2.0-84922331375 |
PMID: | 25439726 |
PMCID: | PMC4225647 |
URI: | https://enauka.gov.rs/handle/123456789/222069 |
Metadata source: | Migrirano iz RIS podataka |
M-category: | |
