Refined Characterization of the Expression and Stability of the SMN Gene Products

Spinal muscular atrophy (SMA) is characterized by degeneration of lower motor neurons and caused by mutations of the SMN1 gene. SMN1 is duplicated in a homologous gene called SMN2, which remains present in patients. SMN has an essential role in RNA metabolism, but its role in SMA pathogenesis remain...

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Hoofdauteurs: Vitte, Jérémie, Fassier, Coralie, Tiziano, Francesco D., Dalard, Cécile, Soave, Sabrina, Roblot, Natacha, Brahe, Christine, Saugier-Veber, Pascale, Bonnefont, Jean Paul, Melki, Judith
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Investigative Pathology 2007
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1988876/
https://ncbi.nlm.nih.gov/pubmed/17717146
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/ajpath.2007.070399
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