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...

Cur síos iomlán

Na minha lista:
Sonraí Bibleagrafaíochta
Foilsithe in: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.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2016
Ábhair:
Article
Rochtain Ar Líne: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
Clibeanna: Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!

Míreanna Comhchosúla