ロード中...
Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type
Methylmalonic aciduria (MMA) cblB type is caused by mutations in the MMAB gene. This encodes the enzyme ATP:cob(I)alamin adenosyltransferase (ATR), which converts reduced cob(I)alamin to an active adenosylcobalamin cofactor. We recently reported the presence of destabilizing pathogenic mutations tha...
保存先:
| 主要な著者: | , , , , , , , , , |
|---|---|
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Oxford University Press
2013
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3749860/ https://ncbi.nlm.nih.gov/pubmed/23674520 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt217 |
| 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!
|