https://www.sciencedaily.com/releases/2016/08/160829122125.htm
Single gene mutation causes severely debilitating disease of brain blood vessels | ScienceDaily
The cause of a disease that targets blood vessels in the brain -- leading to multiple debilitating symptoms and, often, to early death -- has been tracked to a...
single gene mutation
https://www.wikidata.org/wiki/Q33633029
Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from...