Article
Mutation analysis and association studies of the UCHL1 gene in German Parkinson's disease patients.
Neuroreport - 14 Jul 2000
Wintermeyer P, Krüger R, Kuhn W, Müller T, Woitalla D, Berg D, Becker G, Leroy E, Polymeropoulos M, Berger K, Przuntek H, Schöls L, Epplen J T, Riess O
Abstract excerpt
Recently, an Ile93Met substitution has been identified in the ubiquitin carboxy-terminal hydrolase L1 (UCHL1) gene in a single German PD family with autosomal dominant inheritance. To determine whether mutations in the UCHL1 gene are causative for Parkinson's disease (PD) a detailed mutation analysis was performed in a large sample of German sporadic and familial PD patients. We found no disease-causing mutation...
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