Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism

The Roc domain of the Lrrk2 protein harbors two pathogenic mutations which cause autosomal dominant parkinsonism (R1441C and R1441G). A third putatively pathogenic variant (R1441H) has been identified in four probands of diverse ethnicity with parkinsonism. Herein we show that the R1441H substitutio...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Ross, Owen A., Spanaki, Cleanthe, Griffith, Alida, Lin, Chin-Hsien, Kachergus, Jennifer, Haugarvoll, Kristoffer, Latsoudis, Helen, Plaitakis, Andreas, Ferreira, Joaquim J., Sampaio, Cristina, Bonifati, Vincenzo, Wu, Ruey-Meei, Zabetian, Cyrus P., Farrer, Matthew J.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2008
Aiheet:
Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC2749264/
https://ncbi.nlm.nih.gov/pubmed/18952485
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.parkreldis.2008.09.001
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