Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range

PURPOSE: In some Huntington disease (HD) patients, the “loss of interruption” (LOI) variant eliminates an interrupting codon in the HTT CAG-repeat tract, which causes earlier age of onset (AOO). The magnitude of this effect is uncertain, since previous studies included few LOI carriers, and the vari...

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Publicado en:Genet Med
Autores principales: Findlay Black, Hailey, Wright, Galen E. B., Collins, Jennifer A., Caron, Nicholas, Kay, Chris, Xia, Qingwen, Arning, Larissa, Bijlsma, Emilia K., Squitieri, Ferdinando, Nguyen, Huu Phuc, Hayden, Michael R.
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group US 2020
Materias:
Brief Communication
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7708297/
https://ncbi.nlm.nih.gov/pubmed/32741964
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0917-z
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