TY  - GEN
AU  - van Kuilenburg,André B P
AU  - Meijer,Judith
AU  - Mul,Adri N P M
AU  - Hennekam,Raoul C M
AU  - Hoovers,Jan M N
AU  - de Die-Smulders,Christine E M
AU  - Weber,Peter
AU  - Mori,Andrea Capone
AU  - Bierau,Jörgen
AU  - Fowler,Brian
AU  - Macke,Klaus
AU  - Sass,Jörn Oliver
AU  - Meinsma,Rutger
AU  - Hennermann,Julia B
AU  - Miny,Peter
AU  - Zoetekouw,Lida
AU  - Vijzelaar,Raymon
AU  - Nicolai,Joost
AU  - Ylstra,Bauke
AU  - Rubio-Gozalbo,M Estela
TI  - 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)
SN  - 1432-1203
PY  - 2009///0526
KW  - Base Sequence
KW  - Child, Preschool
KW  - Chromosomes, Human, Pair 1
KW  - genetics
KW  - Comparative Genomic Hybridization
KW  - DNA Mutational Analysis
KW  - Dihydropyrimidine Dehydrogenase Deficiency
KW  - Dihydrouracil Dehydrogenase (NADP)
KW  - Exons
KW  - Female
KW  - Gene Rearrangement
KW  - Humans
KW  - In Situ Hybridization, Fluorescence
KW  - Infant
KW  - Male
KW  - Molecular Sequence Data
KW  - Pyrimidines
KW  - analysis
KW  - Sequence Deletion
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s00439-009-0653-6
ER  -