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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...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Cold Spring Harbor Laboratory
2023
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| Materias: | |
| 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 |