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In Silico and In Vivo Analysis of Amino Acid Substitutions That Cause Laminopathies

Mutations in the LMNA gene cause diseases called laminopathies. LMNA encodes lamins A and C, intermediate filaments with multiple roles at the nuclear envelope. LMNA mutations are frequently single base changes that cause diverse disease phenotypes affecting muscles, nerves, and fat. Disease-associa...

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Detalles Bibliográficos
Autores principales: Hinz, Benjamin E., Walker, Sydney G., Xiong, Austin, Gogal, Rose A., Schnieders, Michael J., Wallrath, Lori L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8536974/
https://www.ncbi.nlm.nih.gov/pubmed/34681887
http://dx.doi.org/10.3390/ijms222011226