Bisceglia, Luigi <br/><br/>
Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.  [electronic resource] 

 -  Molecular genetics and metabolism  Jan 2010 
 - 42-52 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1096-7206 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2009.09.001  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Transport Systems, Basic--genetics<br/>Amino Acid Transport Systems, Neutral--genetics<br/>Cohort Studies<br/>Cystinuria--diagnosis<br/>DNA Mutational Analysis<br/>Family Health<br/>Female<br/>Gene Frequency<br/>Gene Rearrangement<br/>Genetic Testing--methods<br/>Humans<br/>Italy<br/>Male<br/>Nucleic Acid Amplification Techniques--methods<br/>Point Mutation<br/>Polymorphism, Single Nucleotide<br/>Reproducibility of Results<br/>Sensitivity and Specificity