APOE p.Leu167del mutation in familial hypercholesterolemia.
Montréal, Canada. In Atherosclerosis, 31 Dec 2013
The strongest evidence of association was found for the previously identified apolipoprotein E mutation (APOE, chromosome 19:45412053-55) known as APOE Leu167del, an in-frame three base-pair deletion.
[Wilson disease - factors affecting clinical presentation].
Warsaw, Poland. In Neurol Neurochir Pol, Mar 2013
Several other factors are suspected to influence WD presentation, including polymorphisms in the genes encoding: apolipoprotein E, prion-related protein, methyltenetetrahydrofolate reductase, Murr1, antioxidant-1, X-linked inhibitor of apoptosis as well as iron metabolism disturbances, gender impact, inflammatory reactions and oxidative stress.