Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij

Human Mutation - Tập 22 Số 2 - Trang 144-150 - 2003
Xiao‐Hua Wu1,2, Jeffrey S. Rush3,2, Denise Karaoglu4, Donna M. Krasnewich5, Mark Lubinsky6, Charles J. Waechter3, Reid Gilmore4, Hudson H. Freeze1
1The Burnham Institute, La Jolla, California
2Xiaohua Wu and Jeffrey S. Rush contributed equally to this work.
3Department of Molecular and Cellular Biochemistry, Chandler Medical Center, College of Medicine, University of Kentucky, Lexington, Kentucky
4Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, Massachusetts
5National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland;
6Genetics and Birth Defects Center, Children's Hospital, Milwaukee, Wisconsin

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Human Mutation

Tập 22 Số 2

144-150

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