van Kuilenburg, André B P <br/><br/>
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).  [electronic resource] 

 -  Human genetics  Jun 2009 
 - 581-90 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1432-1203 
<br/><br/><label>Standard No.: </label>10.1007/s00439-009-0653-6  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Base Sequence<br/>Child, Preschool<br/>Chromosomes, Human, Pair 1--genetics<br/>Comparative Genomic Hybridization<br/>DNA Mutational Analysis<br/>Dihydropyrimidine Dehydrogenase Deficiency--genetics<br/>Dihydrouracil Dehydrogenase (NADP)--genetics<br/>Exons<br/>Female<br/>Gene Rearrangement<br/>Humans<br/>In Situ Hybridization, Fluorescence<br/>Infant<br/>Male<br/>Molecular Sequence Data<br/>Pyrimidines--analysis<br/>Sequence Deletion