Zhang, Da <br/><br/>
Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease.  [electronic resource] 

 -  Chinese medical journal  Jul 2012 
 - 2482-6 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>2542-5641 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Exome--genetics<br/>Genetic Predisposition to Disease<br/>Humans<br/>Male<br/>Mutation<br/>Polycystic Kidney, Autosomal Recessive--genetics<br/>Receptors, Cell Surface--genetics