Parsons, D W <br/><br/>
Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis.  [electronic resource] 

 -  Journal of medical genetics  Aug 1998 
 - 674-6 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0022-2593 
<br/><br/><label>Standard No.: </label>10.1136/jmg.35.8.674  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cyclic AMP Response Element-Binding Protein<br/>DNA Mutational Analysis<br/>Gene Deletion<br/>Genetic Testing<br/>Humans<br/>Infant<br/>Male<br/>Nerve Tissue Proteins--genetics<br/>Nucleic Acid Heteroduplexes<br/>Polymerase Chain Reaction<br/>RNA-Binding Proteins<br/>SMN Complex Proteins<br/>Spinal Muscular Atrophies of Childhood--diagnosis