Browsing by Author Retno-Fitri, Aditia

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Issue DateTitleAuthor(s)Citation
2012Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-IChristodoulou, John; de Brouwer, Arjan P. M.; Duley, John; Friedman, Neil; Moran, Rocio; Nabuurs, Sander B; Retno-Fitri, Aditia; Roelofsen, Jeroen; van Bokhoven, Hans; van Kuilenburg, Andre B P; Yntema, Helger; Children's Hospital Westmead: Paediatrics & Child HealthPhosphoribosylpyrophosphate 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