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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Vydáno v:Am J Med Genet B Neuropsychiatr Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2015
Témata:
Research Articles
On-line přístup: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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