ロード中...
Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice
Spinal muscular atrophy is caused by reduced levels of SMN resulting from the loss of SMN1 and reliance on SMN2 for the production of SMN. Loss of SMN entirely is embryonic lethal in mammals. There are several SMN missense mutations found in humans. These alleles do not show partial function in the...
保存先:
| 出版年: | Hum Mol Genet |
|---|---|
| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Oxford University Press
2020
|
| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7788290/ https://ncbi.nlm.nih.gov/pubmed/33084884 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa235 |
| 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!
|