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Titel:

Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.

Dokumenttyp:
Article
Autor(en):
Schormair, B.; Kemlink, D.; Mollenhauer, B.; Fiala, O.; Machetanz, G.; Roth, J.; Berutti, R.; Strom, T. M.; Haslinger, B.; Trenkwalder, C.; Zahorakova, D.; Martasek, P.; Ruzicka, E.; Winkelmann, J.
Abstract:
Parkinson's disease (PD) is a genetically heterogeneous disorder and new putative disease genes are discovered constantly. Therefore, whole-exome sequencing could be an efficient approach to genetic testing in PD. To evaluate its performance in early-onset sporadic PD, we performed diagnostic exome sequencing in 80 individuals with manifestation of PD symptoms at age 40 or earlier and a negative family history of PD. Variants in validated and candidate disease genes and risk factors for PD and a...     »
Zeitschriftentitel:
Clin Genet
Jahr:
2018
Band / Volume:
93
Heft / Issue:
3
Seitenangaben Beitrag:
603-612
Volltext / DOI:
doi:10.1111/cge.13124
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/28862745
Print-ISSN:
0009-9163
TUM Einrichtung:
Institut für Humangenetik; Lehrstuhl für Neurogenetik (Prof. Winkelmann); Neurologische Klinik und Poliklinik
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