Gardie, Betty <br/><br/>
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.  [electronic resource] 

 -  Journal of medical genetics  Apr 2011 
 - 226-34 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmg.2010.085068  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Aged<br/>Carcinoma, Renal Cell--genetics<br/>Cell Line, Tumor<br/>Codon, Nonsense<br/>Female<br/>Frameshift Mutation<br/>Fumarate Hydratase--genetics<br/>Gene Deletion<br/>Gene Rearrangement<br/>Genotype<br/>Germ-Line Mutation<br/>Humans<br/>INDEL Mutation<br/>Kidney Neoplasms--genetics<br/>Leiomyomatosis--congenital<br/>Male<br/>Middle Aged<br/>Mutation<br/>Mutation, Missense<br/>Neoplastic Syndromes, Hereditary<br/>Pedigree<br/>Skin Neoplasms<br/>Uterine Neoplasms