Parkinson Disease Mutation Database

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Di Fonzo A, Tassorelli C, De Mari M, Chien HF, Ferreira J, Rohé CF, Riboldazzi G, Antonini A, Albani G, Mauro A, Marconi R, Abbruzzese G, Lopiano L, Fincati E, Guidi M, Marini P, Stocchi F, Onofrj M, Toni V, Tinazzi M, Fabbrini G, Lamberti P, Vanacore N, Meco G, Leitner P, Uitti RJ, Wszolek ZK, Gasser T, Simons EJ, Breedveld GJ, Goldwurm S, Pezzoli G, Sampaio C, Barbosa E, Martignoni E, Oostra BA, Bonifati V; Italian Parkinson's Genetics Network. Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease. Eur J Hum Genet 14: 322-31, 2006 (PubMed ID: 16333314)

Mutations

LRRK2: (Leu119Pro) (IVS9-10C>A) (IVS19-9_8insT) (Ile1371Val) (IVS30+12delT) (Arg1441Cys) (Arg1514Gln) (Pro1542Ser) (Met1646Thr) (IVS37-9A>G) (Gly2019Ser) (IVS47-9delT) (Gly2385)

ID: 72


Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic



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