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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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2019
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6655720/
https://ncbi.nlm.nih.gov/pubmed/31339938
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0220211
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