Bouba, I <br/><br/>
Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.  [electronic resource] 

 -  European journal of human genetics : EJHG  Sep 2001 
 - 677-84 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1018-4813 
<br/><br/><label>Standard No.: </label>10.1038/sj.ejhg.5200696  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Base Sequence<br/>Cohort Studies<br/>DNA--chemistry<br/>DNA Mutational Analysis<br/>Family Health<br/>Female<br/>Genetic Variation<br/>Humans<br/>Male<br/>Mutation, Missense<br/>Pedigree<br/>Polycystic Kidney, Autosomal Dominant--genetics<br/>Polymorphism, Genetic<br/>Polymorphism, Single-Stranded Conformational<br/>Proteins--genetics<br/>Sequence Deletion<br/>Sequence Homology, Amino Acid<br/>Sequence Homology, Nucleic Acid<br/>TRPP Cation Channels