SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous mutations of the SMN1 gene. Three forms of SMA are recognized (type I–III) on the basis of clinical severity. All patients have at least one or more (usually 2–4) copies of a highly homologous gene (S...

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Detaylı Bibliyografya
Asıl Yazarlar: Tiziano, Francesco Danilo, Pinto, Anna Maria, Fiori, Stefania, Lomastro, Rosa, Messina, Sonia, Bruno, Claudio, Pini, Antonella, Pane, Marika, D'Amico, Adele, Ghezzo, Alessandro, Bertini, Enrico, Mercuri, Eugenio, Neri, Giovanni, Brahe, Christina
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2010
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987170/
https://ncbi.nlm.nih.gov/pubmed/19603064
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.116
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