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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...

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Detalles Bibliográficos
Autores principales: Gregory, Ellen F., Kalra, Shilpi, Brock, Trisha, Bonne, Gisèle, Luxton, G. W. Gant, Hopkins, Christopher, Starr, Daniel A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
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