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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Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: 2010
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Article
Online Zugang: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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