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Structural Context of a Critical Exon of Spinal Muscular Atrophy Gene

Humans contain two nearly identical copies of Survival Motor Neuron genes, SMN1 and SMN2. Deletion or mutation of SMN1 causes spinal muscular atrophy (SMA), one of the leading genetic diseases associated with infant mortality. SMN2 is unable to compensate for the loss of SMN1 due to predominant exon...

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Detalles Bibliográficos
Autores principales: Singh, Natalia N., O'Leary, Collin A., Eich, Taylor, Moss, Walter N., Singh, Ravindra N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9283826/
https://www.ncbi.nlm.nih.gov/pubmed/35847983
http://dx.doi.org/10.3389/fmolb.2022.928581