RNF213 in moyamoya disease: Genotype-phenotype association and the underlying mechanism.

Abstract excerpt

ABSTRACT: Moyamoya disease (MMD) is a cerebrovascular disorder characterized by a steno-occlusive internal carotid artery and compensatory vascular network formation. Although the precise pathogenic mechanism remains elusive, genetic association studies have identified RNF213 as the principal susceptibility gene for MMD, with the single nucleotide polymorphism p.R4810K recognized as the founder variant...

Topics

Join the communities discussing this publication.

• Adenosine Triphosphatases
• Genetic Association Studies
• Genetic Predisposition to Disease
• Genotype
• Moyamoya Disease