| 1 | ALG12, ALG3, CDG1A, CDG1B, CDG1D, CDG1G, CDG1J, CDG2B, DPAGT1, MOGS, MPI, PMM2
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| Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.
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| 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.
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| Am J Hum Genet 98(2):339-46. doi: 10.1016/j.ajhg.2015.12.007. Epub 2016 Jan 21.
2016
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| 2 | CDG2B, MOGS
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| Glycosylation, hypogammaglobulinemia, and resistance to viral infections.
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| Sadat MA, Moir S, Chun TW, Lusso P, Kaplan G, Wolfe L, Memoli MJ, He M, Vega H, Kim LJ, Huang Y, Hussein N, Nievas E, Mitchell R, Garofalo M, Louie A, Ireland DC, Grunes C, Cimbro R, Patel V, Holzapfel G, Salahuddin D, Bristol T, Adams D, Marciano BE, Hegde M, Li Y, Calvo KR, Stoddard J, Justement JS, Jacques J, Long Priel DA, Murray D, Sun P, Kuhns DB, Boerkoel CF, Chiorini JA, Di Pasquale G, Verthelyi D, Rosenzweig SD.
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| N Engl J Med 370(17):1615-25. doi: 10.1056/NEJMoa1302846. Epub 2014 Apr 9. 2014
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| 3 | 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
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| Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.
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| Leroy JG.
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| Pediatr Res 60(6):643-56. Epub 2006 Oct 25. 2006
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| 4 | MOGS
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| Arg)3 within the N-terminal domain of glucosidase I contains ER targeting information but is not required absolutely for ER localization.
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| Hardt B, Kalz-Fuller B, Aparicio R, Volker C, Bause E.
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| Glycobiology 13(3):159-68. Epub 2002 Nov 26. 2003
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| 5 | CDG2B, MOGS
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| (Arg)3 within the N-terminal domain of glucosidase I contains ER targeting information but is not required absolutely for ER localization.
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| Hardt B, Kalz-Fuller B, Aparicio R, Volker C, Bause E.
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| Glycobiology 13(3):159-68. Epub 2002 Nov 26. 2003
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| 6 | CDG2B, MOGS
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| A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.
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| De Praeter CM, Gerwig GJ, Bause E, Nuytinck LK, Vliegenthart JF, Breuer W, Kamerling JP, Espeel MF, Martin JJ, De Paepe AM, Chan NW, Dacremont GA, Van Coster RN.
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| Am J Hum Genet 66(6):1744-56. Epub 2000 Apr 28. 2000
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| 7 | MOGS
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| Localization of the human glucosidase I gene to chromosome 2p12-p13 by fluorescence in situ hybridization and PCR analysis of somatic cell hybrids.
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| Kalz-FŸller B, et al.
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| Genomics 34 : 442-443. 1996
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