The transmissible amyloidoses: genetical control of spontaneous generation of infectious amyloid proteins by nucleation of configurational change in host precursors: kuru-CJD-GSS-scrapie-BSE. Europ J Epidemiol 7: 567-577, 1991.Goldfarb LG, Brown P, Mitrova E, Cervenakova L, Goldin L, Korczyn AD, Chapman J, Galvez S, Cartier L, Rubenstein R, Gajdusek DC. Creutzfeldt-Jacob disease associated with the PRNP codon 200-lys mutation: an analysis of 45 families. Europ J Epidemiol. 7: 477-486, 1991.p.Asp202AsnGSSp.Val203Ilec.CGC>CAGp.Arg208HisMetsCJD?176640.0023c.G>Ap.Val210Ile176640.0014p.Glu211GlnsCJDp.Gln212Prop.Gln212Glnp.Q217RGSS176640.0012Szwecjap.Glu219Lysp.Arg228Argp.Ser230Serp.Met232Arg176640.0017p.Met232ThrGSSp.Pro238Ser
Insercje +Zmiany liczby wstawek między kodonem 51 a 91 (OMIM#176640.0001)Ilość dodatkowychwstawekŁączna liczbawstawekSekwencjaFenotyp05R1, R2, R2, R3, R4wt(-2)3R1, R2, R4?16R1, R2, R2, R2, R3, R4?27R1, R2, R2, R2a, R2a, R3, R449R1, R2, R2, R2, R2, R2, R2, R3, R449R1, R2, R2, R3, R2, R3, R2, R3, R449R1, R2, R2, R3, R2, R2, R2, R3, R449R1, R2, R2, R2, R2, R2, R2, R3, R4510R1, R2, R2, R3, R2, R2, R2, R2, R3, R4CJD510R1, R2, R2, R3, R2, R3g, R2, R2, R3, R4510R1, R2, R2, R2a, R2, R2a, R2, R2, R3, R4611R1, R2, R2, R2, R3, R2, R3gR2, R2, R3, R4611R1, R2, R2, R3, R2, R3g, R2, R3g, R2, R3, R4611R1, R2, R2, R3g, R2,