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Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease
PURPOSE: Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by stenosis of the internal carotid arteries with compensatory development of collateral vessels. Although a founder variant of RNF213, p.Arg4810Lys (c.14429G>A, rs112735431), is a major genetic risk factor for MMD i...
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| Publicado no: | PLoS One |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5472300/ https://ncbi.nlm.nih.gov/pubmed/28617845 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0179689 |
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