Cecconi, Massimiliano <br/><br/>
A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.  [electronic resource] 

 -  The Journal of molecular diagnostics : JMD  May 2008 
 - 272-5 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1525-1578 
<br/><br/><label>Standard No.: </label>10.2353/jmoldx.2008.070163  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Aged<br/>Child<br/>DNA Mutational Analysis<br/>Female<br/>Fragile X Mental Retardation Protein--genetics<br/>Fragile X Syndrome--diagnosis<br/>Humans<br/>Male<br/>Polymorphism, Single Nucleotide<br/>Sequence Deletion<br/>Trinucleotide Repeats--genetics