Vuillaumier-Barrot, S <br/><br/>
Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients.  [electronic resource] 

 -  Journal of medical genetics  Aug 2000 
 - 579-80 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmg.37.8.579  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Congenital Disorders of Glycosylation--etiology<br/>France<br/>Humans<br/>Mutation<br/>Phosphotransferases (Phosphomutases)--genetics