Ruiz, J L Martín <br/><br/>
Confirmed pathogenic effect of a splice site variation in the MLH1 gene causing Lynch syndrome.  [electronic resource] 

 -  International journal of colorectal disease  Aug 2014 
 - 1019-20 p.  digital 
<br/><br/> Publication Type: Letter; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1432-1262 
<br/><br/><label>Standard No.: </label>10.1007/s00384-014-1890-2  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adaptor Proteins, Signal Transducing--genetics<br/>Colorectal Neoplasms, Hereditary Nonpolyposis--genetics<br/>DNA Mismatch Repair--genetics<br/>Genetic Predisposition to Disease<br/>Humans<br/>Microsatellite Instability<br/>MutL Protein Homolog 1<br/>Mutation--genetics<br/>Nuclear Proteins--genetics<br/>RNA Splice Sites--genetics