Journal article

Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I

Rocio Moran, Andre BP Kuilenburg, John Duley, Sander B Nabuurs, Aditia Retno-Fitri, John Christodoulou, Jeroen Roelofsen, Helger G Yntema, Neil R Friedman, Hans van Bokhoven, Arjan PM de Brouwer

American Journal of Medical Genetics Part A | WILEY-BLACKWELL | Published : 2012

Grants

Awarded by EU


Awarded by Dutch Brain Foundation


Awarded by Dutch Organization for Health Research and Development (ZON-MW)


Awarded by Netherlands Organization for Scientific Research (NWO; VENI)


Funding Acknowledgements

Grant sponsor: EU 7th Framework Program; Grant number: 241995 (GENCODYS); Grant sponsor: Dutch Brain Foundation; Grant number: 2009(2)-81; Grant sponsor: Dutch Organization for Health Research and Development (ZON-MW); Grant number: 917-86-319; Grant sponsor: Netherlands Organization for Scientific Research (NWO; VENI); Grant number: 700.58.410.