The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent

Spinal Muscular Atrophy (SMA) is a disorder characterized by the degeneration of motor neurons in the spinal cord, leading to muscular atrophy. In the majority of cases, SMA is caused by the homozygous absence of the SMN1 gene. The disease severity of SMA is strongly influenced by the copy number of...

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Detalles Bibliográficos
Autores principales: Vijzelaar, Raymon, Snetselaar, Reinier, Clausen, Martijn, Mason, Amanda G., Rinsma, Marrit, Zegers, Marinka, Molleman, Naomi, Boschloo, Renske, Yilmaz, Rizkat, Kuilboer, Romy, Lens, Sylvia, Sulchan, Syamiroh, Schouten, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6655720/
https://www.ncbi.nlm.nih.gov/pubmed/31339938
http://dx.doi.org/10.1371/journal.pone.0220211

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6655720/
https://www.ncbi.nlm.nih.gov/pubmed/31339938
http://dx.doi.org/10.1371/journal.pone.0220211

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