Optical Genome Mapping Enables Detection and Accurate Sizing of <i>RFC1</i> Repeat Expansions

Optical Genome Mapping Enables Detection and Accurate Sizing of <i>RFC1</i> Repeat Expansions

A recessive Short Tandem Repeat expansion in <i>RFC1</i> 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...

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Bibliographic Details
Main Authors: Stefano Facchini, Natalia Dominik, Arianna Manini, Stephanie Efthymiou, Riccardo Currò, Bianca Rugginini, Elisa Vegezzi, Ilaria Quartesan, Benedetta Perrone, Shahedah Koya Kutty, Valentina Galassi Deforie, Ricardo P. Schnekenberg, Elena Abati, Anna Pichiecchio, Enza Maria Valente, Cristina Tassorelli, Mary M. Reilly, Henry Houlden, Enrico Bugiardini, Andrea Cortese
Format: Article
Language:English
Published: MDPI AG 2023-10-01
Series:Biomolecules
Subjects:
optical genome mapping
Southern Blotting
CANVAS
RFC1
bionano
repeat expansion
Online Access:https://www.mdpi.com/2218-273X/13/10/1546

Internet

https://www.mdpi.com/2218-273X/13/10/1546

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