Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors
B. G. Ng(Sanford Burnham Prebys Medical Discovery Institute), Hudson H. Freeze(Discovery Institute), Cynthia J. Tifft(Children's National), Mie Ichikawa(Sanford Burnham Prebys Medical Discovery Institute), Miao He(Fudan University), W. A. Gahl(National Institutes of Health), Lynne A. Wolfe(National Institutes of Health), Thomas C. Markello(National Human Genome Research Institute)
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