ロード中...
MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling
Recurrent missense mutations in the RNA polymerase II Mediator subunit MED12 are associated with X-linked intellectual disability (XLID) and multiple congenital anomalies, including craniofacial, musculoskeletal, and behavioral defects in humans with FG (or Opitz-Kaveggia) and Lujan syndromes. Howev...
保存先:
| 主要な著者: | , , , , , , |
|---|---|
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
National Academy of Sciences
2012
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3511715/ https://ncbi.nlm.nih.gov/pubmed/23091001 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1121120109 |
| 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!
|