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Titel:

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.

Dokumenttyp:
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
Autor(en):
Sharma, M; Ioannidis, JP; Aasly, JO; Annesi, G; Brice, A; Bertram, L; Bozi, M; Barcikowska, M; Crosiers, D; Clarke, CE; Facheris, MF; Farrer, M; Garraux, G; Gispert, S; Auburger, G; Vilarino-Guell, C; Hadjigeorgiou, GM; Hicks, AA; Hattori, N; Jeon, BS; Jamrozik, Z; Krygowska-Wajs, A; Lesage, S; Lill, CM; Lin, JJ; Lynch, T; Lichtner, P; Lang, AE; Libioulle, C; Murata, M; Mok, V; Jasinska-Myga, B; Mellick, GD; Morrison, KE; Meitnger, T; Zimprich, A; Opala, G; Pramstaller, PP; Pichler, I; Park, SS;...     »
Abstract:
Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease . Although additional missense variants were described, their pathogenic role yet remains inconclusive.We performed the largest multi-center study to ascertain the frequency and pathogenicity of the reported vacuolar protein sorting 35 gene variants in more than 15,000 individuals worldwide. p.Asp620Asn was detected in 5 familial and 2 spor...     »
Zeitschriftentitel:
J Med Genet
Jahr:
2012
Band / Volume:
49
Heft / Issue:
11
Seitenangaben Beitrag:
721-6
Sprache:
eng
Volltext / DOI:
doi:10.1136/jmedgenet-2012-101155
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/23125461
Print-ISSN:
0022-2593
TUM Einrichtung:
Institut für Humangenetik
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