Rossetti, S <br/><br/>
Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene.  [electronic resource] 

 -  American journal of medical genetics  Oct 1996 
 - 155-9 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0148-7299 
<br/><br/><label>Standard No.: </label>10.1002/(SICI)1096-8628(19961016)65:2<155::AID-AJMG15>3.0.CO;2-P  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Codon, Terminator<br/>Female<br/>Genetic Linkage<br/>Genetic Markers<br/>Humans<br/>Italy<br/>Male<br/>Middle Aged<br/>Mutation<br/>Nucleic Acid Heteroduplexes<br/>Pedigree<br/>Polycystic Kidney, Autosomal Dominant--etiology<br/>Polymerase Chain Reaction<br/>Proteins--genetics<br/>Restriction Mapping<br/>Sequence Analysis, DNA<br/>TRPP Cation Channels