Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges

Facioscapulohumeral muscular dystrophy (FSHD) is the second most common muscular dystrophy in adults, and it is associated with local D4Z4 chromatin relaxation, mostly via the contraction of the D4Z4 macrosatellite repeat array on chromosome 4q35. In this study, we aimed to investigate the use of Op...

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Detalles Bibliográficos
Autores principales: Efthymiou, Stephanie, Lemmers, Richard J. L. F., Vishnu, Venugopalan Y., Dominik, Natalia, Perrone, Benedetta, Facchini, Stefano, Vegezzi, Elisa, Ravaglia, Sabrina, Wilson, Lindsay, van der Vliet, Patrick J., Mishra, Rinkle, Reyaz, Alisha, Ahmad, Tanveer, Bhatia, Rohit, Polke, James M., Srivastava, Mv Padma, Cortese, Andrea, Houlden, Henry, van der Maarel, Silvère M., Hanna, Michael G., Bugiardini, Enrico
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10669274/
https://www.ncbi.nlm.nih.gov/pubmed/38002249
http://dx.doi.org/10.3390/biom13111567

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10669274/
https://www.ncbi.nlm.nih.gov/pubmed/38002249
http://dx.doi.org/10.3390/biom13111567

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