Novel Pathogenic Lrrk2 p.Asn1437His substitution in familial Parkinson’s disease

Genealogical investigation of a large Norwegian family (F04) with autosomal dominant parkinsonism has identified 18 affected family members over four generations. Genetic studies have revealed a novel pathogenic LRRK2 mutation c.4309 C>A (p.Asn1437His) that co-segregates with disease manifestatio...

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Main Authors: Aasly, Jan O., Vilariño-Güell, Carles, Dachsel, Justus C., Webber, Philip J., West, Andrew B., Haugarvoll, Kristoffer, Johansen, Krisztina K., Toft, Mathias, Nutt, John G., Payami, Haydeh, Kachergus, Jennifer M., Lincoln, Sarah J., Felic, Amela, Wider, Christian, Soto-Ortolaza, Alexandra I., Cobb, Stephanie A., White, Linda R., Ross, Owen A., Farrer, Matthew J.
Format: Artigo
Sprog:Inglês
Udgivet: 2010
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2970614/
https://ncbi.nlm.nih.gov/pubmed/20669305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mds.23265
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