Article
Ethnic variation and the relevance of homozygous RNF 213 p.R4810.K variant in the phenotype of Indian Moya moya disease.
PloS one - 1 Jan 2020
K Arun, Shafeeque C M, Sudhir Jayanand B, Banerjee Moinak, P N Sylaja
Abstract excerpt
BACKGROUND AND PURPOSE: Polymorphisms in Ring Finger Protein 213 (RNF 213) gene have been detected to confer genetic susceptibility to Moya moya disease (MMD) in the East Asian population. We investigated the frequency of RNF 213 gene polymorphism and its association with MMD phenotypes in the Indian population. MATERIALS AND METHODS: A case-control study for RNF 213 polymorphism involving 65 MMD patients, 75...
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