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Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA
Striated muscle laminopathies caused by missense mutations in the nuclear lamin gene LMNA are characterized by cardiac dysfunction and often skeletal muscle defects. Attempts to predict which LMNA variants are pathogenic and to understand their physiological effects lag behind variant discovery. We...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10484454/ https://www.ncbi.nlm.nih.gov/pubmed/37624850 http://dx.doi.org/10.1371/journal.pgen.1010895 |