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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Detalhes bibliográficos
Main Authors: Vitte, Jérémie, Fassier, Coralie, Tiziano, Francesco D., Dalard, Cécile, Soave, Sabrina, Roblot, Natacha, Brahe, Christine, Saugier-Veber, Pascale, Bonnefont, Jean Paul, Melki, Judith
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2007
Assuntos:
Regular Articles
Acesso em linha: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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