Qu, Yu-Jin <br/><br/>
p.Val19Glyfs*21 and p.Leu228* variants in the survival of motor neuron 1 trigger nonsense-mediated mRNA decay causing the SMN1 PTC+ transcripts degradation.  [electronic resource] 

 -  Mutation research  12 2017 
 - 31-38 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1873-135X 
<br/><br/><label>Standard No.: </label>10.1016/j.mrfmmm.2017.09.005  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cells, Cultured<br/>Child, Preschool<br/>Fibroblasts--drug effects<br/>Humans<br/>Lymphocytes--drug effects<br/>Male<br/>Muscular Atrophy, Spinal--genetics<br/>Mutation<br/>Nonsense Mediated mRNA Decay--drug effects<br/>Protein Synthesis Inhibitors--pharmacology<br/>Puromycin--pharmacology<br/>RNA Helicases--antagonists & inhibitors<br/>RNA, Messenger--genetics<br/>RNA, Small Interfering--genetics<br/>Survival of Motor Neuron 1 Protein--genetics<br/>Trans-Activators--antagonists & inhibitors