Deficiency for the ubiquitin ligase ube3b in a blepharophimosis-ptosis- intellectual-disability syndrome

Ubiquitination plays a crucial role in neurodevelopment as exemplified by Angelman syndrome, which is caused by genetic alterations of the ubiquitin ligase-encoding UBE3A gene. Although the function of UBE3A has been widely studied, little is known about its paralog UBE3B. By using exome and capilla...

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Những tác giả chính:	Basel-Vanagaite, L, Dallapiccola, B, Ramirez-Solis, R, Segref, A, Thiele, H, Edwards, A, Arends, M, Miró, X, White, J, Désir, J, Abramowicz, M, Dentici, M, Lepri, F, Hofmann, K, Har-Zahav, A, Ryder, E, Karp, N, Estabel, J, Gerdin, A
Định dạng:	Journal article
Được phát hành:	2012

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Bằng Basel-Vanagaite, L, Dallapiccola, B, Ramirez-Solis, R, Segref, A, Thiele, H, Edwards, A, Arends, M, Miró, X, White, J, Désir, J, Abramowicz, M, Dentici, M, Lepri, F, Hofmann, K, Har-Zahav, A, Ryder, E, Karp, N, Estabel, J, Gerdin, A, Podrini, C, Ingham, N, Altmüller, J, Nürnberg, G, Frommolt, P, Abdelhak, S

Được phát hành 2012

Journal article

Deficiency for the ubiquitin ligase ube3b in a blepharophimosis-ptosis- intellectual-disability syndrome

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