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Titel:

A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease.

Dokumenttyp:
Journal Article
Autor(en):
Haubenberger, D; Bonelli, S; Hotzy, C; Leitner, P; Lichtner, P; Samal, D; Katzenschlager, R; Djamshidian, A; Brücke, T; Steffelbauer, M; Bancher, C; Grossmann, J; Ransmayr, G; Strom, TM; Meitinger, T; Gasser, T; Auff, E; Zimprich, A
Abstract:
To investigate the frequency of mutations in the Leucine-Rich Repeat Kinase 2 gene (LRRK2) in a sample of Austrian Parkinson's disease (PD) patients, we sequenced the complete coding region in 16 patients with autosomal dominant PD. Furthermore, we sequenced exons 31, 35, and 41 additionally in 146 patients with idiopathic PD and 30 patients with dementia with Lewy bodies. Furthermore, all 192 patients were screened for 21 putative LRRK2 mutations. While the most common mutation G2019S and the r...     »
Zeitschriftentitel:
Mov Disord
Jahr:
2007
Band / Volume:
22
Heft / Issue:
11
Seitenangaben Beitrag:
1640-3
Sprache:
eng
Volltext / DOI:
doi:10.1002/mds.21568
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/17523199
Print-ISSN:
0885-3185
TUM Einrichtung:
Institut für Humangenetik
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