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).

van Kuilenburg, André B P

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

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1432-1203

10.1007/s00439-009-0653-6 doi


Base Sequence
Child, Preschool
Chromosomes, Human, Pair 1--genetics
Comparative Genomic Hybridization
DNA Mutational Analysis
Dihydropyrimidine Dehydrogenase Deficiency--genetics
Dihydrouracil Dehydrogenase (NADP)--genetics
Exons
Female
Gene Rearrangement
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Molecular Sequence Data
Pyrimidines--analysis
Sequence Deletion