RNF213 Mutations in an Ethnically Diverse Population with Moyamoya Disease

BACKGROUND AND PURPOSE: Moyamoya disease (MMD) is a rare, genetically heterogeneous cerebrovascular disease resulting from occlusion of the distal internal carotid arteries. A variant in the Ring Finger 213 gene (RNF213), altering arginine at position 4810 (p.R4810K), is associated with MMD in Asian...

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Publié dans:Stroke
Auteurs principaux: Cecchi, Alana C., Guo, Dongchuan, Ren, Zhao, Flynn, Kelly, Santos-Cortez, Regie Lyn P., Leal, Suzanne M., Wang, Gao T., Regalado, Ellen S., Steinberg, Gary K., Shendure, Jay, Bamshad, Michael J., Grotta, James C., Nickerson, Deborah A., Pannu, Hariyadarshi, Milewicz, Dianna M.
Format: Artigo
Langue:Inglês
Publié: 2014
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4420622/
https://ncbi.nlm.nih.gov/pubmed/25278557
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/STROKEAHA.114.006244
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