de Alencastro, G <br/><br/>
New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.  [electronic resource] 

 -  Journal of medical genetics  Aug 2008 
 - 539-43 p.  digital 
<br/><br/> Publication Type: Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmg.2007.056713  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Child<br/>DNA Mutational Analysis<br/>Female<br/>Genes, Recessive<br/>Humans<br/>Male<br/>X-Linked Intellectual Disability--genetics<br/>Mutation, Missense<br/>Pedigree<br/>Spermine Synthase--genetics<br/>Syndrome