Journal article
Deficiency for the ubiquitin ligase ube3b in a blepharophimosis-ptosis- intellectual-disability syndrome
- Abstract:
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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 capillary sequencing, we here identify biallelic UBE3B mutations in four patients from three unrelated families presenting an autosomal-recessive blepharophimosis- ptosis-intellectual-disability syndrome ...
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- Publisher copy:
- 10.1016/j.ajhg.2012.10.011
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Bibliographic Details
- Journal:
- American Journal of Human Genetics
- Volume:
- 91
- Issue:
- 6
- Pages:
- 998-1010
- Publication date:
- 2012-12-07
- DOI:
- EISSN:
-
1537-6605
- ISSN:
-
0002-9297
- Source identifiers:
-
368149
Item Description
- Pubs id:
-
pubs:368149
- UUID:
-
uuid:4951a6c9-69e8-401d-9eff-47b4e6f70db8
- Local pid:
- pubs:368149
- Deposit date:
- 2013-11-17
Terms of use
- Copyright date:
- 2012
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