Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease.

Mi-Ae JangJong-Won ChungJe Young YeonJong-Soo KimSeung Chyul HongOh Young BangChange Seok Ki

Published in: PloS one (2017)

These results suggest that, in our cohort of Korean patients, the p.Arg4810Lys is the only variant that is strongly associated with MMD among the 30 RNF213 variants listed in the HGMD.

Keyphrases

end stage renal disease
copy number
ejection fraction
chronic kidney disease
newly diagnosed
peritoneal dialysis
dna damage response
middle cerebral artery
gene expression
young adults