SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

Proximal spinal muscular atrophy (SMA) is an early-onset motor neuron disease characterized by loss of α-motor neurons and associated muscle atrophy. SMA is caused by deletion or other disabling mutation of survival motor neuron 1 (SMN1). In the human genome, a large duplication of the SMN-containin...

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Publicado en:Mol Genet Genomic Med
Autores principales: Stabley, Deborah L, Harris, Ashlee W, Holbrook, Jennifer, Chubbs, Nicholas J, Lozo, Kevin W, Crawford, Thomas O, Swoboda, Kathryn J, Funanage, Vicky L, Wang, Wenlan, Mackenzie, William, Scavina, Mena, Sol-Church, Katia, Butchbach, Matthew E R
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Method
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4521962/
https://ncbi.nlm.nih.gov/pubmed/26247043
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.141
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