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Publications
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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) |
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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)
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ID: 407 | |
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Pietroboni AM, Fumagalli GG, Ghezzi L, Fenoglio C, Cortini F, Serpente M, Cantoni C, Rotondo E, Corti P, Carecchio M, Bassi M, Bresolin N, Galbiati D, Galimberti D, Scarpini E. Phenotypic heterogeneity of the GRN Asp22fs mutation in a large Italian kindred. Journal of Alzheimer's Disease 24: 253-259, 2011 (PubMed ID: 21258152) |
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GRN:
(Asp22fs)
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ID: 691 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
Selection:
Publication ID In (407,691)
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