Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease

Huntington's disease (HD) is a neurodegenerative disorder characterized by involuntary choreic movements, cognitive impairment, and behavioral changes, caused by the expansion of an unstable CAG repeat in HTT. We characterized the genetic diversity of the HD mutation by performing an extensive...

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Detalles Bibliográficos
Publicado en:Am J Med Genet B Neuropsychiatr Genet
Autores principales: Ramos, Eliana Marisa, Gillis, Tammy, Mysore, Jayalakshmi S., Lee, Jong‐Min, Gögele, Martin, D'Elia, Yuri, Pichler, Irene, Sequeiros, Jorge, Pramstaller, Peter P., Gusella, James F., MacDonald, Marcy E., Alonso, Isabel
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2015
Materias:
Research Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5006842/
https://ncbi.nlm.nih.gov/pubmed/25656686
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.b.32289
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