Ronchi, Dario <br/><br/>
Novel splice-site mutation in SMN1 associated with a very severe SMA-I phenotype.  [electronic resource] 

 -  Journal of molecular neuroscience : MN  May 2015 
 - 212-5 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1559-1166 
<br/><br/><label>Standard No.: </label>10.1007/s12031-014-0483-4  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Exons<br/>Humans<br/>Infant<br/>Male<br/>Muscular Atrophy, Spinal--diagnosis<br/>Mutation<br/>Phenotype<br/>Survival of Motor Neuron 1 Protein--genetics