Pathogenic CANVAS (AAGGG)(n) repeats stall DNA replication due to the formation of alternative DNA structures

CANVAS is a recently characterized repeat expansion disease, most commonly caused by homozygous expansions of an intronic (A(2)G(3))(n) repeat in the RFC1 gene. There are a multitude of repeat motifs found in the human population at this locus, some of which are pathogenic and others benign. In this...

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Detalles Bibliográficos
Autores principales: Hisey, Julia A., Radchenko, Elina A., Ceschi, Silvia, Rastokina, Anastasia, Mandel, Nicholas H., McGinty, Ryan J., Matos-Rodrigues, Gabriel, Hernandez, Alfredo, Nussenzweig, André, Mirkin, Sergei M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10402041/
https://www.ncbi.nlm.nih.gov/pubmed/37546920
http://dx.doi.org/10.1101/2023.07.25.550509

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10402041/
https://www.ncbi.nlm.nih.gov/pubmed/37546920
http://dx.doi.org/10.1101/2023.07.25.550509

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