Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?

Spinal muscular atrophy (SMA) is a neuromuscular disorder, characterized by muscle atrophy and impaired mobility. A homozygous deletion of survival motor neuron 1 (SMN1), exon 7 is the main cause of SMA in ~94% of patients worldwide, but only accounts for 51% of South African (SA) black patients. SM...

Descripción completa

Detalles Bibliográficos
Autores principales: Vorster, Elana, Essop, Fahmida B., Rodda, John L., Krause, Amanda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7033609/
https://www.ncbi.nlm.nih.gov/pubmed/32117462
http://dx.doi.org/10.3389/fgene.2020.00054

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7033609/
https://www.ncbi.nlm.nih.gov/pubmed/32117462
http://dx.doi.org/10.3389/fgene.2020.00054

Ejemplares similares