Nalaganje...
Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype
Cofilin-2 is an actin-binding protein that is predominantly expressed in skeletal and cardiac muscles and belongs to the AC group of proteins, which includes cofilin-1 and destrin. In humans, cofilin-2 (CFL2) mutations have been associated with congenital myopathies that include nemaline and myofibr...
Shranjeno v:
| izdano v: | Hum Mol Genet |
|---|---|
| Main Authors: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Oxford University Press
2020
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7390935/ https://ncbi.nlm.nih.gov/pubmed/32160286 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa035 |
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