Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

Proximal spinal muscular atrophy is an autosomal recessive human disease of spinal motor neurons leading to muscular weakness with onset predominantly in infancy and childhood. With an estimated heterozygote frequency of 1/40 it is the most common monogenic disorder lethal to infants; milder forms r...

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Detalhes bibliográficos

Publicado no:	Proc Natl Acad Sci U S A
Principais autores:	Schrank, Bertold, Götz, Rudolf, Gunnersen, Jennifer M., Ure, Janice M., Toyka, Klaus V., Smith, Austin G., Sendtner, Michael
Formato:	Artigo
Idioma:	Inglês
Publicado em:	National Academy of Sciences 1997
Assuntos:	Biological Sciences
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC23295/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9275227/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.94.18.9920
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