Parkinson Disease Mutation Database

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Publications

Kann M, Jacobs H, Mohrmann K, Schumacher K, Hedrich K, Garrels J, Wiegers K, Schwinger E, Pramstaller PP, Breakefield XO, Ozelius LJ, Vieregge P, Klein C. Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. Ann Neurol 51: 621-5, 2002 (PubMed ID: 12112109)

Mutations

PARK2: (ex2del (breakpoints not mapped)) (ex2trip (breakpoints not mapped)) (ex2-5del (breakpoints not mapped)) (ex3dup (breakpoints not mapped)) (ex3-4del (breakpoints not mapped)) (ex4del (breakpoints not mapped)) (ex4-5del (breakpoints not mapped)) (ex7dup (breakpoints not mapped)) (ex9dup (breakpoints not mapped)) (Pro37Leu) (Lys211Asn) (Arg275Trp) (Thr351Pro)

ID: 224


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



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