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|Title:||Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I|
de Brouwer, Arjan P. M.
Nabuurs, Sander B
van Bokhoven, Hans
van Kuilenburg, Andre B P
Children's Hospital Westmead: Paediatrics & Child Health
|Publisher:||John Wiley & Sons|
|Citation:||Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I, American Journal of Medical Genetics. Part A, vol.158A, 2, 2012,pp 455-460|
|Department/Unit/Centre:||Children's Hospital Westmead: Paediatrics & Child Health|
|Disclaimer:||This work has been made available to the staff and students of the University of Sydney for the purposes of research and study only. It constitutes material that is held by the University for the purposes of reporting for HERDC and the ERA. This work may not be downloaded, copied and distributed to any third party .|
|Type:||C1 - Refereed Journal articles|
|Appears in Collections:||University of Sydney Research Outputs|
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