PHENOTYPIC VARIABILITY IN UMPS HETEROZYGOTES WITH OROTIC ACIDURIA
Margaret A. Chen,Saskia B. Wortmann,Lorenzo D. Botto,Curtis R. Coughlin,Maria Descartes, McKenna Kyriss,Bruno Maranda,James Pitt,Catherine Potente,Richard Rodenburg, Srirangan Sampath, Petra van Settend,Gerard Vockley,Paula J. Waters,Janet A. Thomas,James L. Weber,Susan M. White, George E. Tiller,Ron A. Wevers MOLECULAR GENETICS AND METABOLISM(2016)
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