Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, Snowden J, Adamson J, Sadovnick AD, Rollinson S, Cannon A, Dwosh E, Neary D, Melquist S, Richardson A, Dickson D, Berger Z, Eriksen J, Robinson T, Zehr C, Dickey CA, Crook R, McGowan E, Mann D, Boeve B, Feldman H, Hutton M. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442: 916-919, 2006 (PubMed ID: 16862116)

Mutations

GRN: (Met1) (Cys31fs) (Gln125X) (Gln130fs) (Val279fs) (Thr382fs) (Trp386X) (Arg418X) (Gln468X)

ID: 381

Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, Crook R, Melquist S, Kuntz K, Petersen R, Josephs K, Brown SP, Graff-Radford N, Uitti R, Dickson D, Wzsolek Z, Gonzalez J, Beach TG, Bigio E, Johnson N, Weintraub S, Mesulam M, White CL 3rd, Woodruff B, Caselli R, Hsiung GY, Feldman H, Knopman D, Hutton M, Rademakers R. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Human Molecular Genetics 15: 2988-3001, 2006 (PubMed ID: 16950801)

Mutations

GRN: (Met1) (Ala9Asp) (Arg19Trp) (Asp22fs) (Cys31fs) (Asp33) (Gly35fs) (IVS2+1G>A) (Thr52fs) (Gly79fs) (Glu88) (Cys105Arg) (Asp128) (Gln130fs) (Ala155fs) (Ser226fs) (Asn236) (Val200fs) (Cys253X) (Val279fs;IVS8-1G>C) (Glu287Asp) (Ser301) (Trp304fs) (Trp304X) (Val279fs) (Ala324Thr) (Gly333fs) (Thr382fs) (Trp386X) (Arg418X) (Arg418Gln) (Arg433Trp) (Cys466fs) (Cys474) (Arg493X) (Gly515Ala)

ID: 407