Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians

Moyamoya angiopathy (MMA) is a cerebral angiopathy affecting the terminal part of internal carotid arteries. Its prevalence is 10 times higher in Japan and Korea than in Europe. In East Asian countries, moyamoya is strongly associated to the R4810K variant in the RNF213 gene that encodes for a prote...

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Publicat a:Eur J Hum Genet
Autors principals: Guey, Stéphanie, Kraemer, Markus, Hervé, Dominique, Ludwig, Thomas, Kossorotoff, Manoëlle, Bergametti, Françoise, Schwitalla, Jan Claudius, Choi, Simone, Broseus, Lucile, Callebaut, Isabelle, Genin, Emmanuelle, Tournier-Lasserve, Elisabeth
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2017
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5567158/
https://ncbi.nlm.nih.gov/pubmed/28635953
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.92
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