Cobben, J M <br/><br/>
[From gene to disease; 'survival' motor neuron protein and hereditary proximal spinal muscle atrophy].  [electronic resource] 

 -  Nederlands tijdschrift voor geneeskunde  Dec 2001 
 - 2525-7 p.  digital 
<br/><br/> Publication Type: Journal Article; Review 
<br/><br/><label>ISSN: </label>0028-2162 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Child<br/>Chromosomes, Human, Pair 5<br/>Cyclic AMP Response Element-Binding Protein<br/>DNA Mutational Analysis<br/>Gene Expression<br/>Genetic Carrier Screening<br/>Homozygote<br/>Humans<br/>Mutation<br/>Nerve Tissue Proteins--genetics<br/>Netherlands<br/>Phenotype<br/>Prenatal Diagnosis<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