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De novo Huntington disease caused by 26–44 CAG repeat expansion on a low-risk haplotype
Huntington disease (HD, OMIM #143100) is a dominantly inherited neurodegenerative disorder due to a CAG repeat expansion in the HTT gene, encoding a polyglutamine tract in the N-terminal part of the huntingtin protein. Most cases are inherited from an affected parent, but in about 10% of cases the c...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Lippincott Williams & Wilkins
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3795589/ https://ncbi.nlm.nih.gov/pubmed/23946314 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182a4a4af |
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