ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10

Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant disorder caused by an expanded pentanucleotide repeat in the ATXN10 gene. This repeat expansion, when fully penetrant, has a size of 850–4,500 repeats. It has been shown that the repeat composition can be a modifier of disease, e.g., se...

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Detalles Bibliográficos
Autores principales: Morato Torres, C. Alejandra, Zafar, Faria, Tsai, Yu-Chih, Vazquez, Jocelyn Palafox, Gallagher, Michael D., McLaughlin, Ian, Hong, Karl, Lai, Jill, Lee, Joyce, Chirino-Perez, Amanda, Romero-Molina, Angel Omar, Torres, Francisco, Fernandez-Ruiz, Juan, Ashizawa, Tetsuo, Ziegle, Janet, Jiménez Gil, Francisco Javier, Schüle, Birgitt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9460507/
https://www.ncbi.nlm.nih.gov/pubmed/36092952
http://dx.doi.org/10.1016/j.xhgg.2022.100137

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9460507/
https://www.ncbi.nlm.nih.gov/pubmed/36092952
http://dx.doi.org/10.1016/j.xhgg.2022.100137

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