 |
 |
|||||||||||||||||||||
|
||||||||||||||||||||||
 |
 |
Publications
|
Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323: 1205-1208, 2009 (PubMed ID: 19251627) |
|
|
FUS:
(Gly174_Gly175del; delGG)
(Gly175_Gly176ins; insGG)
(Arg244Cys)
(Arg514Ser,Gly515Cys)
(His517Gln)
(Arg518Lys)
(Arg521Gly)
(Arg521Cys)
(Arg521His)
(Arg522Gly)
(Arg524Thr)
(Arg524Ser)
(Pro525Leu)
|
|
ID: 628 | |
|
Ticozzi N, Silani V, LeClerc AL, Keagle P, Gellera C, Ratti A, Taroni F, Kwiatkowski TJ Jr, McKenna-Yasek DM, Sapp PC, Brown RH Jr, Landers JE. Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort. Neurology 73: 1180-1185, 2009 (PubMed ID: 19741215) |
|
|
FUS:
(Gly156Glu)
(Arg234Leu)
(Arg521Gly)
(Arg521Cys)
(Arg522)
|
|
ID: 630 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
Selection:
Publication ID In (628,630)
 |
Top | Back | AD&FTDMDB Home |