| 1 | B3GALNT2, MDC1D |
| Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan. | |
| Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, Manning M, Krause A, Salih MA, Walsh CA, Hurles M, Campbell KP, Manzini MC; UK10K Consortium, Stemple D, Lin YY, Muntoni F. | |
| Am J Hum Genet 92(3):354-65. doi: 10.1016/j.ajhg.2013.01.016. Epub 2013 Feb 28. 2013 | |
| 2 | B3GALNT2 |
| A novel human beta1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAcbeta1-3GlcNAc. | |
| Hiruma T, Togayachi A, Okamura K, Sato T, Kikuchi N, Kwon YD, Nakamura A, Fujimura K, Gotoh M, Tachibana K, Ishizuka Y, Noce T, Nakanishi H, Narimatsu H. | |
| J Biol Chem 279(14):14087-95. Epub 2004 Jan 14. 2004 | |