Whats the ideal genetic study to identify genetic changes in a rare condition like moyamoya disease in INDIA? does anyone have experience in RNF213 mutation detection? what might be the ideal method to see this
PCR with Sanger study since you are working on the target region.
Moreover, if the target mutation happens to introduce or silence a restriction enzyme site, you can also try enzyme cleavage to detect the mutation.
For the selection of searching region, public database is a good start points 1000genome or EXAC
Is it accurate or false, and why?
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