Li, Qian <br/><br/>
A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome.  [electronic resource] 

 -  Chinese medical journal  2014 
 - 4190-6 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/>Bardet-Biedl Syndrome--genetics<br/>Child, Preschool<br/>Codon, Nonsense--genetics<br/>Female<br/>Humans<br/>Microtubule-Associated Proteins<br/>Proteins--genetics