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Publications
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Le Ber I, Camuzat A, Hannequin D, Pasquier F, Guedj E, Rovelet-Lecrux A, Hahn-Barma V, van der Zee J, Clot F, Bakchine S, Puel M, Ghanim M, Lacomblez L, Mikol J, Deramecourt V, Lejeune P, de la Sayette V, Belliard S, Vercelletto M, Meyrignac C, Broeckhoven CV, Lambert JC, Verpillat P, Campion D, Habert MO, Dubois B, Brice A; the French research network on FTD/FTD-MND. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain 131: 732-746, 2008 (PubMed ID: 18245784) |
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GRN:
(Met1)
(Trp7Arg)
(Arg110X)
(Asn118fs)
(Val121fs)
(Pro127fs)
(Gln130fs)
(Ala155fs)
(Cys157fs)
(Val200fs; IVS7+1G>A)
(Cys253X)
(Thr272fs)
(Cys314X)
(Cys366fs)
(Gln401X)
(Ala412fs)
(Glu498fs)
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ID: 501 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
Selection:
Publication ID In (501)
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