Mailman, Matthew D <br/><br/>
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.  [electronic resource] 

 -  Genetics in medicine : official journal of the American College of Medical Genetics   
 - 20-6 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>1098-3600 
<br/><br/><label>Standard No.: </label>10.1097/00125817-200201000-00004  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Cyclic AMP Response Element-Binding Protein<br/>Female<br/>Genetic Carrier Screening<br/>Genetic Testing<br/>Homozygote<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Male<br/>Mutation<br/>Nerve Tissue Proteins--genetics<br/>Phenotype<br/>RNA-Binding Proteins<br/>SMN Complex Proteins<br/>Spinal Muscular Atrophies of Childhood--genetics<br/>Survival of Motor Neuron 1 Protein<br/>Survival of Motor Neuron 2 Protein