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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Enregistré dans:
Détails bibliographiques
Publié dans:PLoS One
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2019
Sujets:
Research Article
Accès en ligne: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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