Fernández-Guerra, Paula <br/><br/>
Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.  [electronic resource] 

 -  Journal of inherited metabolic disease  Dec 2010 
 - S191-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1573-2665 
<br/><br/><label>Standard No.: </label>10.1007/s10545-010-9077-7  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)--genetics<br/>Alternative Splicing<br/>Cell Line, Tumor<br/>Child<br/>Computational Biology<br/>DNA Mutational Analysis<br/>Genetic Predisposition to Disease<br/>Genetic Testing<br/>Humans<br/>Introns<br/>Male<br/>Maple Syrup Urine Disease--diagnosis<br/>Phenotype<br/>Point Mutation<br/>RNA, Messenger--metabolism<br/>Severity of Illness Index<br/>Transcription, Genetic<br/>Transfection