| 1 | BPID, UBE3B |
| Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome. | |
| Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miró X, White JK, Désir J, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp NA, Estabel J, Gerdin AK, Podrini C, Ingham NJ, Altmüller J, Nürnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Nürnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G. | |
| Am J Hum Genet 91(6):998-1010. doi: 10.1016/j.ajhg.2012.10.011. Epub 2012 Nov 29. 2012 | |
| 2 | AREL1, C12orf51, HACE1, HECTD1, HECW2, HERC4, RAD23B, RAD23BL, UBE3B, UBE3C, UBR5 |
| Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing. | |
| Gong TW, Huang L, Warner SJ, Lomax MI. | |
| Genomics 82(2):143-52. 2003 | |