Dancourt, Julia <br/><br/>
A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings.  [electronic resource] 

 -  Pediatric research  Jun 2006 
 - 835-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0031-3998 
<br/><br/><label>Standard No.: </label>10.1203/01.pdr.0000219430.52532.8e  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Amino Acid Sequence<br/>Base Sequence<br/>Blotting, Western<br/>Child, Preschool<br/>Congenital Disorders of Glycosylation--diagnosis<br/>DNA Primers<br/>Female<br/>Glycosylation<br/>Humans<br/>Introns<br/>Male<br/>Mannosyltransferases--chemistry<br/>Molecular Sequence Data<br/>Mutation<br/>Reverse Transcriptase Polymerase Chain Reaction<br/>Sequence Homology, Amino Acid<br/>Siblings