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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Detaylı Bibliyografya
Yayımlandı:PLoS One
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science 2019
Konular:
Research Article
Online Erişim: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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