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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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Опубликовано в: :Am J Med Genet B Neuropsychiatr Genet
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: 2016
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Online-ссылка: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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