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EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease
Huntington disease (HD) is caused by the expansion of an unstable polymorphic trinucleotide (CAG)n repeat in exon 1 of the HTT gene, which translates into an extended polyglutamine tract in the protein. Laboratory diagnosis of HD involves estimation of the number of CAG repeats. Molecular genetic te...
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| Главные авторы: | , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Nature Publishing Group
2013
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3641377/ https://ncbi.nlm.nih.gov/pubmed/22990145 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.200 |
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