ロード中...
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...
保存先:
| 主要な著者: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Elsevier
2012
|
| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3516591/ https://ncbi.nlm.nih.gov/pubmed/23200864 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.10.011 |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|