Genetic fine-mapping of the Iowan SNCA gene triplication in a patient with Parkinson’s disease

The “Iowa kindred,” a large Iowan family with autosomal-dominant Parkinson’s disease, has been followed clinically since the 1920s at the Mayo Clinic. In 2003, the genetic cause was determined to be a 1.7 Mb triplication of the alpha-synuclein genomic locus. Affected individuals present with an earl...

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Detalles Bibliográficos
Autores principales: Zafar, Faria, Valappil, Ruksana Azhu, Kim, Sam, Johansen, Krisztina K., Chang, Anne Lynn S., Tetrud, James W., Eis, Peggy S., Hatchwell, Eli, Langston, J. William, Dickson, Dennis W., Schüle, Birgitt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003950/
https://www.ncbi.nlm.nih.gov/pubmed/29928688
http://dx.doi.org/10.1038/s41531-018-0054-4

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