Desviat, Lourdes R <br/><br/>
New splicing mutations in propionic acidemia.  [electronic resource] 

 -  Journal of human genetics  2006 
 - 992-997 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1434-5161 
<br/><br/><label>Standard No.: </label>10.1007/s10038-006-0068-3  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alternative Splicing<br/>Amino Acid Metabolism, Inborn Errors--epidemiology<br/>Base Sequence<br/>Carbon-Carbon Ligases--genetics<br/>Exons<br/>Fibroblasts--metabolism<br/>Founder Effect<br/>Genotype<br/>Heterozygote<br/>Humans<br/>Introns<br/>Molecular Sequence Data<br/>Mutation<br/>RNA, Messenger--metabolism<br/>Sequence Analysis, DNA