Gene of the issue: ANO6 and Scott Syndrome.

Abstract

Scott Syndrome is a very rare inhibited bleeding disorder characterised by an isolated deficit in procoagulant activity in platelets and other blood cells, caused by a lack of phosphatidylserine (PS) exposure following activation.[1,2] It results from mutations in ANO6, which encodes the phospholipid scramblase protein, TMEM16F.[3]British Heart Foundation FS/15/62/3203

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