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Article

The Role of RNF213 4810G>A and 4950G>A Variants in Patients with Moyamoya Disease in Korea.

International journal of molecular sciences - 21 Nov 2017

Park Young Seok, An Hui Jeong, Kim Jung Oh, Kim Won Seop, Han In Bo, Kim Ok Joon, Kim Nam Keun, Kim Dong-Seok

Abstract excerpt

Although a founder variant of RNF213 4810G>A is a major genetic risk factor for moyamoya disease (MMD) in East Asians, the frequency and disease susceptibility of RNF213 variants remain largely unknown. This study investigated the mutation analysis of RNF213 (4448, 4810, 4863, and 4950) between Korean MMD and healthy controls. We performed a polymerase chain reaction-restriction fragment length polymorphism...

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Identifiers

PMID: 29160859
DOI: 10.3390/ijms18112477
PMCID: PMC5713443

Genes

MMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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