- Abstract:
-
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 ...
Expand abstract - Publisher copy:
- 10.1016/j.ajhg.2012.10.011
-
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- Journal:
- American Journal of Human Genetics
- Volume:
- 91
- Issue:
- 6
- Pages:
- 998-1010
- Publication date:
- 2012-12-07
- DOI:
- EISSN:
-
1537-6605
- ISSN:
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0002-9297
- URN:
-
uuid:4951a6c9-69e8-401d-9eff-47b4e6f70db8
- Source identifiers:
-
368149
- Local pid:
- pubs:368149
- Copyright date:
- 2012
Journal article
Deficiency for the ubiquitin ligase ube3b in a blepharophimosis-ptosis- intellectual-disability syndrome
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