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Paper Details

Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.
Hum Mol Genet
58
2015
ATCase, Arg2024Gln, CAD, CPS2, CTP, Cytoplasmic carbamoyl-phosphate synthetase 2, DHOase, DNA, RNA, The other, UDP, UTP, Uridine, aspartate, aspartate transcarbamylase, c.1843, c.6071G, c.6071G>A, carbamoyl phosphate, carbamoyl-phosphate, carbamoyl-phosphate synthetase 1, carbamoyl-phosphate synthetase 2, dihydroorotase, exon 13, glycosylation disorder, human, hyperammonemia, p.Arg2024Gln, pyrimidine, sugars, urea
Author NameAffiliation
Bobby G NgSanford - Burnham Medical Research Institute
Lynne A Wolfe
Lynne A Wolfe
Thomas C Markello
Miao HeChildren's Hospital of Philadelphia
Cynthia J TifftOffice of the Director and National Human Genome Research Institute, National Institutes of Health
Cynthia J TifftOffice of the Director and National Human Genome Research Institute, National Institutes of Health
William A GahlOffice of the Director and National Human Genome Research Institute, National Institutes of Health
William A GahlOffice of the Director and National Human Genome Research Institute, National Institutes of Health
Hudson H FreezeSanford - Burnham Medical Research Institute
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