Article
[Precision Medicine for Moyamoya Disease].
No shinkei geka. Neurological surgery - 1 Jan 2022
Fujimura Miki
Abstract excerpt
Moyamoya disease(MMD)is a chronic, occlusive cerebrovascular disease characterized by progressive stenosis at the internal carotid artery terminus and abnormal vascular network formation at the base of the brain. Although its etiology is still unknown, recent genetic analysis identified RNF213 as an important susceptibility gene for MMD. A single nucleotide polymorphism in c.14576G>A(p.R4810K)in RNF213 was...
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