Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy

Spinal muscular atrophy (SMA) is a progressive recessive genetic disease. Early identification is critical for achieving maximal treatment benefit. Survival motor neuron (SMN) 2 copy number may be a needed descriptor of disease severity than SMA type. Therefore, we assessed knowledge of SMN2 copy nu...

Descripción completa

Detalles Bibliográficos
Autores principales: Belter, Lisa, Mazzella, Allison, O’Brien, Shannon, Jarecki, Jill
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9642888/
https://www.ncbi.nlm.nih.gov/pubmed/36346824
http://dx.doi.org/10.1371/journal.pone.0276756

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9642888/
https://www.ncbi.nlm.nih.gov/pubmed/36346824
http://dx.doi.org/10.1371/journal.pone.0276756

Ejemplares similares