Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions

A recessive Short Tandem Repeat expansion in RFC1 has been found to be associated with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS), and to be a frequent cause of late onset ataxia and sensory neuropathy. The usual procedure for sizing these expansions is based on Souther...

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Detalles Bibliográficos
Autores principales: Facchini, Stefano, Dominik, Natalia, Manini, Arianna, Efthymiou, Stephanie, Currò, Riccardo, Rugginini, Bianca, Vegezzi, Elisa, Quartesan, Ilaria, Perrone, Benedetta, Kutty, Shahedah Koya, Galassi Deforie, Valentina, Schnekenberg, Ricardo P., Abati, Elena, Pichiecchio, Anna, Valente, Enza Maria, Tassorelli, Cristina, Reilly, Mary M., Houlden, Henry, Bugiardini, Enrico, Cortese, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605474/
https://www.ncbi.nlm.nih.gov/pubmed/37892228
http://dx.doi.org/10.3390/biom13101546

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