Waanders, Esmé <br/><br/>
Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease.  [electronic resource] 

 -  Human mutation  Aug 2006 
 - 830 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.9441  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Calcium-Binding Proteins<br/>Codon, Nonsense<br/>Cohort Studies<br/>Cysts--diagnosis<br/>DNA Mutational Analysis<br/>Glucosidases<br/>Humans<br/>Intracellular Signaling Peptides and Proteins<br/>Liver Diseases--diagnosis<br/>Membrane Proteins--genetics<br/>Molecular Chaperones<br/>Mutation, Missense<br/>Pedigree<br/>Phenotype<br/>Phosphoproteins--genetics<br/>Polymorphism, Genetic<br/>RNA-Binding Proteins