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The Discovery of LRRK2 p.Arg1441Ser, a novel mutation for Parkinson’s disease, Adds to the Complexity of a Mutational Hotspot

Mutations in the LRRK2 gene result in autosomal dominant, late onset Parkinson’s disease (PD). Three such mutations (p.Arg1441Cys, p.Arg1441Gly, and p.Arg1441His) are known to occur within codon 1441, and haplotype analyses indicate that each one has arisen independently on multiple occasions. We se...

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Detalhes bibliográficos
Publicado no:Am J Med Genet B Neuropsychiatr Genet
Main Authors: Mata, Ignacio F., Davis, Marie Y., Lopez, Alexis N., Dorschner, Michael O., Martinez, Erica, Yearout, Dora, Cholerton, Brenna A., Hu, Shu-Ching, Edwards, Karen L., Bird, Thomas D., Zabetian, Cyrus P.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5028305/
https://ncbi.nlm.nih.gov/pubmed/27111571
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.b.32452
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