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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Pubblicato in:Eur J Hum Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2017
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Article
Accesso online: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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