Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine SMN2 Copy Number

Promising treatments for spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, prompted calls for inclusion in newborn screening (NBS). In January 2018, the New England Newborn Screening Program (NENSP) began statewide screening for SMA using a tiered algorithm looking for th...

Descripción completa

Detalles Bibliográficos
Autores principales: Kumar, Binod, Barton, Samantha, Kordowska, Jolanta, Eaton, Roger B., Counihan, Anne M., Hale, Jaime E., Comeau, Anne Marie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8395917/
https://www.ncbi.nlm.nih.gov/pubmed/34449530
http://dx.doi.org/10.3390/ijns7030047

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8395917/
https://www.ncbi.nlm.nih.gov/pubmed/34449530
http://dx.doi.org/10.3390/ijns7030047

Ejemplares similares