Nakajima, Yoko <br/><br/>
Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene.  [electronic resource] 

 -  International journal of molecular sciences  Jan 2016 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1422-0067 
<br/><br/><label>Standard No.: </label>10.3390/ijms17010086  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alternative Splicing<br/>Amidohydrolases--chemistry<br/>Base Sequence<br/>Catalytic Domain<br/>Child<br/>Exons<br/>Female<br/>Gene Expression<br/>Genetic Vectors--chemistry<br/>HEK293 Cells<br/>Heterozygote<br/>Humans<br/>Infant<br/>Introns<br/>Metabolism, Inborn Errors--enzymology<br/>Models, Molecular<br/>Molecular Sequence Data<br/>Mutation<br/>Protein Structure, Secondary<br/>RNA Precursors--genetics<br/>Recombinant Proteins--chemistry<br/>Sequence Alignment