| 1 | ALG12, ALG3, CDG1A, CDG1B, CDG1D, CDG1G, CDG1J, CDG2B, DPAGT1, MOGS, MPI, PMM2
|
| Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.
|
| Kane MS, Davids M, Adams C, Wolfe LA, Cheung HW, Gropman A, Huang Y; NISC Comparative Sequencing Program, Ng BG, Freeze HH, Adams DR, Gahl WA, Boerkoel CF.
|
| Am J Hum Genet 98(2):339-46. doi: 10.1016/j.ajhg.2015.12.007. Epub 2016 Jan 21.
2016
|
| 2 | CDG1J, DPAGT1
|
| A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
|
| Iqbal Z, Shahzad M, Vissers LE, van Scherpenzeel M, Gilissen C, Razzaq A, Zahoor MY, Khan SN, Kleefstra T, Veltman JA, de Brouwer AP, Lefeber DJ, van Bokhoven H, Riazuddin S.
|
| Eur J Hum Genet 21(8):844-9. doi: 10.1038/ejhg.2012.257. Epub 2012 Dec 19.
2013
|
| 3 | CDG1J, DPAGT1
|
| Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.
|
| Imtiaz F, Al-Mostafa A, Al-Hassnan ZN.
|
| JIMD Rep 2:107-11. doi: 10.1007/8904_2011_57. Epub 2011 Sep 6.
2012
|
| 4 | 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
|
| 5 | CDG1A, CDG1B, CDG1C, CDG1D, CDG1E, CDG1F, CDG1G, CDG1H, CDG1J, CDG1K, CDG2A, CDG2B, CDG2C, CDG2E, CDG2G, CDG2H
|
| The skeletal manifestations of the congenital disorders of glycosylation.
|
| Coman D, Irving M, Kannu P, Jaeken J, Savarirayan R.
|
| Clin Genet 73(6):507-15. Epub 2008 May 6. Review. 2008
|
| 6 | ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, CDG1A, CDG1B, CDG1C, CDG1D, CDG1E, CDG1F, CDG1G, CDG1H, CDG1I, CDG1J, CDG1K, CDG1L, CDG2A, CDG2B, CDG2E, CDG2G, CDG2H, COG1, COG7, COG8, DPAGT1, DPM1, MGAT2, MOGS, MPDU1, MPI, PMM2
|
| Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.
|
| Leroy JG.
|
| Pediatr Res 60(6):643-56. Epub 2006 Oct 25. 2006
|
| 7 | CDG1J, DPAGT1
|
| Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij.
|
| Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, Gilmore R, Freeze HH.
|
| Hum Mutat 22(2):144-50. 2003
|