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Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy
Nemaline myopathy (NM) is the most common form of congenital myopathy that results in hypotonia and muscle weakness. This disease is clinically and genetically heterogeneous, but three recently discovered genes in NM encode for members of the Kelch family of proteins. Kelch proteins act as substrate...
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| Publicado no: | Hum Mol Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6644164/ https://ncbi.nlm.nih.gov/pubmed/30986853 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz078 |
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