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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...

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Bibliografske podrobnosti
izdano v:Hum Mol Genet
Main Authors: Rosen, Samantha M, Joshi, Mugdha, Hitt, Talia, Beggs, Alan H, Agrawal, Pankaj B
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2020
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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