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

• Hoofdauteurs: Schiöth Helgi B (Auteur), Egorova Anna A (Auteur), Chavan Rohit (Auteur), Rask-Andersen Mathias (Auteur), Vakharlovsky Viktor G (Auteur), Kiselev Anton V (Auteur), Zheleznyakova Galina (Auteur), Baranov Vladislav S (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2011-07-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Spinal muscular atrophy (SMA type I, II and III) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron gene (<it>SMN1</it>). <it>SMN2 </it>is a centromeric copy gene...