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Mutations in LRRK2

Mutation

Exon /
Domain

Citations

1

LRRK2 Arg1398
   (g.089100T>G)

   Not pathogenic

EX30
ROC

Abdalla-Carvalho CB, 2010

2

LRRK2 Thr1410Met
   (g.89135C>T)

   Pathogenic nature unclear

EX30
ROC

Lesage S, 2009
Abdalla-Carvalho CB, 2010

3

LRRK2 Gly2019Ser
   (g.120390G>A)

EX41
Kinase

Di Fonzo A, 2005
Gilks WP, 2005
Nichols WC, 2005
Hernandez DG, 2005
Kachergus J, 2005
Aasly JO, 2005
Deng H, 2005
Kay DM, 2005
Lesage S, 2005
Gosal D, 2005
Farrer M, 2005
Paisán-Ruíz C, 2005
Zabetian CP, 2005
Goldwurm S, 2005
Lesage S, 2005
Biskup S, 2005
Bras JM, 2005
Khan NL, 2005
Mata IF, 2005
Hernandez D, 2005
Lesage S, 2006
Ozelius LJ, 2006
Giasson BI, 2006
Ross OA, 2006
Di Fonzo A, 2006
Gaig C, 2006
Infante J, 2006
Kay DM, 2006
Mata IF, 2006
Williams-Gray CH, 2006
Schlitter AM, 2006
Saunders-Pullman R, 2006
Isaias IU, 2006
Marongiu R, 2006
Tomiyama H, 2006
Zabetian CP, 2006
Hedrich K, 2006
Ishihara L, 2006
Papapetropoulos S, 2006
Carmine Belin A, 2006
Goldwurm S, 2006
Zabetian CP, 2006
Rajput A, 2006
Spanaki C, 2006
Clark LN, 2006
Funalot B, 2006
Pchelina SN, 2006
Punia S, 2006
Scholz S, 2006
Dächsel JC, 2006
Deng H, 2006
Ishihara L, 2007
Xiromerisiou G, 2007
Giordana MT, 2007
Cossu G, 2007
Lesage S, 2007
Civitelli D, 2007
Illarioshkin SN, 2007
Goldwurm S, 2007
Dächsel JC, 2007
Huang Y, 2007
Gaig C, 2007
Ferreira JJ, 2007
Perez-Pastene C, 2007
Orr-Urtreger A, 2007
Nichols WC, 2007
González-Fernández MC, 2007
Johnson J, 2007
Lesage S, 2007
Squillaro T, 2007
Bras J, 2008
Munhoz RP, 2008
Chen-Plotkin AS, 2008
Pimentel MM, 2008
Paisán-Ruíz C, 2008
Healy DG, 2008
Hulihan MM, 2008
Möller JC, 2008
Pchelina SN, 2008
Aguiar P de C, 2008
Gaig C, 2008
Marras C, 2008
Change N, 2008
Djaldetti R, 2008
Lesage S, 2008
Latourelle JC, 2008
Santos-Rebouças CB, 2008
Covy JP, 2009
Mellick GD, 2009
Barsottini OG, 2009
De Rosa A, 2009
Hassin-Baer S, 2009
Patra B, 2009
Gao L, 2009
Gorostidi A, 2009
Lesage S, 2009
Munhoz RP, 2009
Rizzo G, 2009
Floris G, 2009
Zabetian CP, 2009
Mata IF, 2009
Pirkevi C, 2009
Abdalla-Carvalho CB, 2010
Bardien S, 2010

4

LRRK2 Cys2139Ser
   (g.131562T>A)

   Pathogenic nature unclear

EX44
L3

Abdalla-Carvalho CB, 2010

5

LRRK2 Tyr2189Cys
   (g.131713A>G)

   Pathogenic nature unclear

EX44
WD40

Nuytemans K, 2008
Abdalla-Carvalho CB, 2010


Selection: Publication ID = 425



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