Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III

BACKGROUND: Spinal muscular atrophy (SMA type I, II and III) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron gene (SMN1). SMN2 is a centromeric copy gene that has been characterized as a major modifier of SMA severity. SMA type I patients have one or...

Descripción completa

Detalles Bibliográficos
Autores principales: Zheleznyakova, Galina Yu, Kiselev, Anton V, Vakharlovsky, Viktor G, Rask-Andersen, Mathias, Chavan, Rohit, Egorova, Anna A, Schiöth, Helgi B, Baranov, Vladislav S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3146920/
https://www.ncbi.nlm.nih.gov/pubmed/21762474
http://dx.doi.org/10.1186/1471-2350-12-96

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3146920/
https://www.ncbi.nlm.nih.gov/pubmed/21762474
http://dx.doi.org/10.1186/1471-2350-12-96

Ejemplares similares