| 1 | CDG1O, DPM3 |
| Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. | |
| Lefeber DJ, Schönberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grünewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA. | |
| Am J Hum Genet 85(1):76-86. Epub 2009 Jul 2. 2009 | |
| 2 | ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, CDG1A, CDG1B, CDG1C, CDG1D, CDG1E, CDG1F, CDG1G, CDG1H, CDG1I, CDG1J, CDG1K, CDG1L, CDG1N, CDG1O, DK1D, DOLK, DPAGT1, DPM1, DPM3, MPDU1, MPI, PMM2, RFT1 |
| Congenital disorders of glycosylation: An update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. | |
| Haeuptle MA, Hennet T. | |
| Hum Mutat um Mutat. 2009 Oct 27. [Epub ahead of print] 2009 | |