Vuillaumier-Barrot, Sandrine <br/><br/>
PMM2 intronic branch-site mutations in CDG-Ia.  [electronic resource] 

 -  Molecular genetics and metabolism  Apr 2006 
 - 337-40 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1096-7192 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2005.10.015  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Base Sequence<br/>Congenital Disorders of Glycosylation--genetics<br/>Consensus Sequence<br/>Glycosylation<br/>Heterozygote<br/>Humans<br/>Introns<br/>Male<br/>Mutation<br/>Phosphotransferases (Phosphomutases)--deficiency<br/>RNA Splicing