載入...
Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates
We identify two heteroallelic mutations in the acetylcholine receptor δ-subunit from a patient with severe myasthenic symptoms since birth: a novel δD140N mutation in the signature Cys-loop and a mutation in intron 7 of the δ-subunit gene that disrupts splicing of exon 8. The mutated Asp residue, wh...
Na minha lista:
| 發表在: | J Biol Chem |
|---|---|
| Main Authors: | , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
American Society for Biochemistry and Molecular Biology
2016
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4751375/ https://ncbi.nlm.nih.gov/pubmed/26698174 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M115.683995 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|