FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach

Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant myodystrophy. Approximately 95% of cases of FSHD are caused by partial deletion of the D4Z4 macrosatellite tandem repeats on chromosome 4q35. The existing FSHD1 diagnostic methods are laborious and not widely used. Here, we present a comp...

Descripción completa

Detalles Bibliográficos
Autores principales: Zernov, Nikolay Vladimirovich, Guskova, Anna Alekseevna, Skoblov, Mikhail Yurevich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8226754/
https://www.ncbi.nlm.nih.gov/pubmed/34071558
http://dx.doi.org/10.3390/diagnostics11060982

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8226754/
https://www.ncbi.nlm.nih.gov/pubmed/34071558
http://dx.doi.org/10.3390/diagnostics11060982

Ejemplares similares