Eggermann, Thomas <br/><br/>
A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches.  [electronic resource] 

 -  Neuromuscular disorders : NMD  Feb 2008 
 - 146-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0960-8966 
<br/><br/><label>Standard No.: </label>10.1016/j.nmd.2007.10.003  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cyclic AMP Response Element-Binding Protein--genetics<br/>Fatal Outcome<br/>Genetic Testing--methods<br/>Humans<br/>Infant<br/>Male<br/>Muscular Atrophy, Spinal--diagnosis<br/>Nerve Tissue Proteins--genetics<br/>Point Mutation<br/>RNA Splicing--genetics<br/>RNA-Binding Proteins--genetics<br/>Reproducibility of Results<br/>Reverse Transcriptase Polymerase Chain Reaction--standards<br/>SMN Complex Proteins<br/>Survival of Motor Neuron 1 Protein