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Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis

BACKGROUND AND OBJECTIVES: To perform the first screen of 44 amyotrophic lateral sclerosis (ALS) genes in a cohort of African genetic ancestry individuals with ALS using whole-genome sequencing (WGS) data. METHODS: One hundred three consecutive cases with probable/definite ALS (using the revised El...

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Detalles Bibliográficos
Autores principales: Nel, Melissa, Mahungu, Amokelani C., Monnakgotla, Nomakhosazana, Botha, Gerrit R., Mulder, Nicola J., Wu, Gang, Rampersaud, Evadnie, van Blitterswijk, Marka, Wuu, Joanne, Cooley, Anne, Myers, Jason, Rademakers, Rosa, Taylor, J. Paul, Benatar, Michael, Heckmann, Jeannine M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8756565/
https://www.ncbi.nlm.nih.gov/pubmed/35047667
http://dx.doi.org/10.1212/NXG.0000000000000654