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RNF213 p.Arg4810Lys Heterozygosity in Moyamoya Disease Indicates Early Onset and Bilateral Cerebrovascular Events.

Translational stroke research - 1 Jun 2022

Ishigami Daiichiro, Miyawaki Satoru, Imai Hideaki, Shimizu Masahiro, Hongo Hiroki, Dofuku Shogo, Ohara Kenta, Teranishi Yu, Shimada Daisuke, Koizumi Satoshi, Ono Hideaki, Hirano Yudai, Segawa Masafumi, Nakatomi Hirofumi, Saito Nobuhito

Abstract excerpt

The relationship between RNF213 c.14429G > A (p.Arg4810Lys) heterozygous variants and clinical manifestation in patients with Moyamoya disease (MMD) remains unclear. We performed a retrospective cohort analysis to clarify the genotype-phenotype correlation of this RNF213 hotspot variant in MMD patients, especially between wild-type (GG) and heterozygous (GA) genotypes. Clinical and genetic data were obtained from...

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PMID: 34716882
DOI: 10.1007/s12975-021-00956-8

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