eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | dihydropyrimidine dehydrogenase deficiency |
| Comorbidity | C0027947|neutropenia |
| Sentences | 1 |
| PubMedID- 23481061 | The allele dpyd*2a, a ivs14 + 1 g>a splice site transition that causes skipping of exon 14, has been found in up to 40 to 50 per cent of patients who developed grade 4 neutropenia, and was associated with dpd deficiency8. |
Page: 1