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

Pubmed ID: 
22246954
Year: 
2012
Month: 
Feb
Volume: 
158A
Issue: 
2
Citation: 
Moran R, Kuilenburg AB, Duley J, Nabuurs SB, Retno-Fitri A, Christodoulou J, Roelofsen J, Yntema HG, Friedman NR, van Bokhoven H, de Brouwer AP. Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I. American journal of medical genetics. Part A 158A (2) : 455 - 60(2012) PubMed