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

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 K...

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Detalles Bibliográficos
Autores principales: Park, Young Seok, An, Hui Jeong, Kim, Jung Oh, Kim, Won Seop, Han, In Bo, Kim, Ok Joon, Kim, Nam Keun, Kim, Dong-Seok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5713443/
https://www.ncbi.nlm.nih.gov/pubmed/29160859
http://dx.doi.org/10.3390/ijms18112477