Translating genetic and functional data into clinical practice: a series of 223 families with myotonia

High-throughput DNA sequencing is increasingly employed to diagnose single gene neurological and neuromuscular disorders. Large volumes of data present new challenges in data interpretation and its useful translation into clinical and genetic counselling for families. Even when a plausible gene is i...

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Detalles Bibliográficos
Autores principales: Suetterlin, Karen, Matthews, Emma, Sud, Richa, McCall, Samuel, Fialho, Doreen, Burge, James, Jayaseelan, Dipa, Haworth, Andrea, Sweeney, Mary G, Kullmann, Dimitri M, Schorge, Stephanie, Hanna, Michael G, Männikkö, Roope
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9014745/
https://www.ncbi.nlm.nih.gov/pubmed/34529042
http://dx.doi.org/10.1093/brain/awab344

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9014745/
https://www.ncbi.nlm.nih.gov/pubmed/34529042
http://dx.doi.org/10.1093/brain/awab344

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