ACZX - Dagvadorj,A.; Petersen,R.B.; Lee,H.S.; Cervenakova,L.; Shatunov,A.; Budka,H.; Brown,P.; Gambetti,P.; Goldfarb,L.G. - Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy - Annals of Neurology 2002 Sep; 52(3): 355-9
ARUV - Shatunov,A.; Fridman,E.A.; Pagan,F.I.; Leib,J.; Singleton,A.; Hallett,M.; Goldfarb,L.G. - Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease - Clinical Genetics 2004 Dec; 66(6): 496-501