CareLit · DOI-Nachweis · Aktuelle Neurologie
A novel P159L mutation in the Parkin gene related to autosomal dominantly inherited late onset parkinsonism and protein aggregation
DOI 10.1055/s-2004-832982
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Nachweis in CareLit
Autor:innenR Krüger, FP Marx, D Berg, C Holzmann, T Müller, JB Schulz, C Klein, O Riess
ZeitschriftAktuelle Neurologie
Ausgabe09/2004
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Mutations in the gene encoding the ubiquitin E3 ligase Parkin gene have been identified in autosomal recessively inherited forms of juvenile parkinsonism. Moreover single amino acid substitutions in the Parkin protein were linked to the common sporadic form of Parkinson disease (PD) acting as susceptibility alleles. We performed a mutation screening in the Parkin gene in 25 index patients of German PD families with…
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Zitierempfehlung
R Krüger, FP Marx, D Berg, C Holzmann, T Müller, JB Schulz, C Klein, O Riess (2004) A novel P159L mutation in the Parkin gene related to autosomal dominantly inherited late onset parkinsonism and protein aggregation. Aktuelle Neurologie (09). https://doi.org/10.1055/s-2004-832982
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