Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I Journal Articles Refereed uri icon

Overview

Authors

  • Authorship

    • MORAN R
    • VAN BOKHOVEN H
    • DE BROUWER APM
    • KUILENBURG ABP
    • DULEY J
    • NABUURS SB
    • RETNO-FITRI A
    • PROF John Christodoulou
    • ROELOFSEN J
    • YNTEMA HG
    • FRIEDMAN NR

Published in

  • American Journal of Medical Genetics. Part A

Time

Date/time value

  • 2012

Identity

Digital Object Identifier (DOI)

  • 10.1002/ajmg.a.34428

Additional Document Info

Parent Title

  • AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Volume

  • 158A

Issue

  • 2

Publisher

  • John Wiley & Sons