Kotani, Tomohiro <br/><br/>
A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins.  [electronic resource] 

 -  Journal of neurology  May 2007 
 - 624-30 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0340-5354 
<br/><br/><label>Standard No.: </label>10.1007/s00415-006-0410-x  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Substitution<br/>Child<br/>Child, Preschool<br/>Chromatography, High Pressure Liquid<br/>Chromosomal Proteins, Non-Histone--metabolism<br/>Cyclic AMP Response Element-Binding Protein--genetics<br/>DNA Mutational Analysis--methods<br/>Family Health<br/>Female<br/>Humans<br/>Male<br/>Nerve Tissue Proteins--genetics<br/>RNA-Binding Proteins--genetics<br/>Radioligand Assay--methods<br/>SMN Complex Proteins<br/>Serine--genetics<br/>Spinal Muscular Atrophies of Childhood--genetics<br/>Survival of Motor Neuron 1 Protein<br/>Tryptophan--genetics