| 1 | CDG2Q, TMEM199 |
| TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. | |
| Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ. | |
| Am J Hum Genet 98(2):322-30. doi: 10.1016/j.ajhg.2015.12.011. Epub 2016 Jan 28. 2016 | |
| 2 | CDG2Q, COG2 |
| Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation. | |
| Kodera H, Ando N, Yuasa I, Wada Y, Tsurusaki Y, Nakashima M, Miyake N, Saitoh S, Matsumoto N, Saitsu H. | |
| Clin Genet 87(5):455-60. doi: 10.1111/cge.12417. Epub 2014 May 24. 2015 | |