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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Bibliografiska uppgifter
I publikationen:Am J Med Genet B Neuropsychiatr Genet
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2015
Ämnen:
Research Articles
Länkar: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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