Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows

Genetic testing for SMA diagnosis, newborn screening, and carrier screening has become a significant public health interest worldwide, driven largely by the development of novel and effective molecular therapies for the treatment of spinal muscular atrophy (SMA) and the corresponding updates to test...

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Detalles Bibliográficos
Autores principales: Milligan, John N., Blasco-Pérez, Laura, Costa-Roger, Mar, Codina-Solà, Marta, Tizzano, Eduardo F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498682/
https://www.ncbi.nlm.nih.gov/pubmed/36140824
http://dx.doi.org/10.3390/genes13091657

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498682/
https://www.ncbi.nlm.nih.gov/pubmed/36140824
http://dx.doi.org/10.3390/genes13091657

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