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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2010
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Article
Accés en línia: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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