How to Cite this Article: Moran R, Kuilenburg ABP, Duley J, Nabuurs SB, Retno-Fitri A, Christodoulou J, Roelofsen J, Yntema HG, Friedman NR, van Bokhoven H, de Brouwer APM. 2012. Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I. Am J Med Genet Part A 158A:455–460.
Version of Record online: 13 JAN 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 2, pages 455–460, February 2012
How to Cite
Moran, R., Kuilenburg, A. B.P., Duley, J., Nabuurs, S. B., Retno-Fitri, A., Christodoulou, J., Roelofsen, J., Yntema, H. G., Friedman, N. R., van Bokhoven, H. and de Brouwer, A. P.M. (2012), Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I. Am. J. Med. Genet., 158A: 455–460. doi: 10.1002/ajmg.a.34428
Rocio Moran and André B.P. Kuilenburg contributed equally to this study.
- Issue online: 19 JAN 2012
- Version of Record online: 13 JAN 2012
- Manuscript Accepted: 16 NOV 2011
- Manuscript Received: 8 APR 2011
- EU 7th Framework Program. Grant Number: 241995 (GENCODYS)
- Dutch Brain Foundation. Grant Number: 2009(2)-81
- Dutch Organization for Health Research and Development (ZON-MW). Grant Number: 917-86-319
- Netherlands Organization for Scientific Research (NWO; VENI). Grant Number: 700.58.410
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