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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: 2008
Matèries:
Article
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars