Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease
Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease
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United States: Public Library of Science
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English
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United States: Public Library of Science
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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 in East Asians, the frequency and disease susceptibility of oth...
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Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease
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TN_cdi_plos_journals_1910318138
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1910318138
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0179689
