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Publications
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Lesage S, Condroyer C, Lannuzel A, Lohmann E, Troiano A, Tison F, Damier P, Thobois S, Ouvrard-Hernandez AM, Rivaud-Péchoux S, Brefel-Courbon C, Destée A, Tranchant C, Romana M, Leclere L, Dürr A, Brice A. Molecular analyses of the LRRK2 gene in European and North-African autosomal dominant Parkinson's disease. J Med Genet Epub: , 2009 (PubMed ID: 19357115) |
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LRRK2:
(c.-30G>C)
(Ser52Phe)
(Leu119Pro)
(His275)
(Glu334Lys)
(Asn363Ser)
(Val674)
(Ile810Val)
(His1216Arg)
(Arg1325Gln)
(Ile1371Val)
(Thr1410Met)
(IVS30+12delT)
(Arg1441His)
(Pro1542Ser)
(IVS32+14G>A)
(Met1646Thr)
(Gly2019Ser)
(IVS46-14T>A)
(IVS46-8delT)
(Gly2385)
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ID: 179 | |
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Abdalla-Carvalho CB, Santos-Rebouças CB, Guimarães BC, Campos M, Pereira JS, Zuma de Rosso AL, Nicaretta DH, Marinho E Silva M, Mendonça Dos Santos J, Pimentel MM.. Genetic analysis of LRRK2 functional domains in Brazilian patients with Parkinson's disease. Eur J Neurol Epub: , 2010 (PubMed ID: 20443975) |
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LRRK2:
(Arg1398)
(Thr1410Met)
(Gly2019Ser)
(Cys2139Ser)
(Tyr2189Cys)
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ID: 425 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
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