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)

A.B.P. van Kuilenburg, J. Meijer, A.N.P.M. Mul, R.C.M. Hennekam, J.M.N. Hoovers, C.E.M. de Die-Smulders, P. Weber, A.C. Mori, J. Bierau, B. Fowler, K. Macke, J.O. Sass, R. Meinsma, J.B. Hennermann, P. Miny, L. Zoetekouw, R. Vijzelaar, J. Nicolai, B. Ylstra, M.E. Rubio-Gozalbo

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)581-590
JournalHuman Genetics
Volume125
Issue number5-6
DOIs
Publication statusPublished - 2009

Cite this

van Kuilenburg, A. B. P., Meijer, J., Mul, A. N. P. M., Hennekam, R. C. M., Hoovers, J. M. N., de Die-Smulders, C. E. M., ... Rubio-Gozalbo, M. E. (2009). 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). Human Genetics, 125(5-6), 581-590. https://doi.org/10.1007/s00439-009-0653-6