Vega, Ana I <br/><br/>
Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.  [electronic resource] 

 -  Human mutation  May 2009 
 - 795-803 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.20960  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Base Sequence<br/>Carbohydrate Metabolism, Inborn Errors--enzymology<br/>DNA Mutational Analysis<br/>Fibroblasts--enzymology<br/>Gene Expression Regulation, Enzymologic<br/>Genotype<br/>Glycosylation<br/>Humans<br/>Molecular Sequence Data<br/>Mutation--genetics<br/>Phenotype<br/>Phosphotransferases (Phosphomutases)--genetics<br/>RNA Splicing--genetics<br/>RNA, Messenger--genetics<br/>Reverse Transcriptase Polymerase Chain Reaction