Guerreiro RJ, Santana I, Bras JM, Revesz T, Rebelo O, Ribeiro MH, Santiago B, Oliveira CR, Singleton A, Hardy J. Novel progranulin mutation: Screening for PGRN mutations in a Portuguese series of FTD/CBS cases. Movement Disorders 23: 1269-1273, 2008 (PubMed ID: 18464284)

Mutations

GRN: (Leu14) (Asp128) (Thr182Met) (Gly302fs)

ID: 526

Guerreiro RJ, Washecka N, Hardy J, Singleton A. A thorough assessment of benign genetic variability in GRN and MAPT. Human Mutation 31: E1126-E1140, 2010 (PubMed ID: 20020531)

Mutations

GRN: (Leu14) (Arg19Trp) (Asp33) (Arg55Trp) (Ala69Thr) (Thr76) (Ala89) (Asp108) (Asn119del) (Ser120Tyr) (Asp128) (Pro134) (Ala169) (Thr182Met) (Thr182) (Cys221Ser) (Ser262) (Asp376Asn) (Ser398Leu) (Thr409) (Arg433Gln) (Ala505) (Gly515Ala) (Asp518) (Arg564His) (Cys565)
MAPT: (His14) (Thr17Met) (Tyr18) (Thr30Ala) (Pro200) (Ala227) (Asn255) (Leu266) (Pro270) (Val300Ile)

ID: 641