Parkinson Disease Mutation Database

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Publications

Klein C, Djarmati A, Hedrich K, Schäfer N, Scaglione C, Marchese R, Kock N, Schüle B, Hiller A, Lohnau T, Winkler S, Wiegers K, Hering R, Bauer P, Riess O, Abbruzzese G, Martinelli P, Pramstaller PP. PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. Eur J Hum Genet 13: 1086-93, 2005 (PubMed ID: 15970950)

Mutations

PARK2: (Lys211Asn) (Arg275Trp)
PINK1: (c.-21G>A) (Arg279His) (534_535insQ)

ID: 254


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



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