LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle

Mutations in the human LMNA gene, encoding A-type lamins, give rise to laminopathies, which include several types of muscular dystrophy. Here, heterozygous sequence variants in LMNA, which result in single amino-acid substitutions, were identified in patients exhibiting muscle weakness. To assess wh...

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Detalles Bibliográficos
Autores principales: Dialynas, George, Flannery, Kaitlin M., Zirbel, Luka N., Nagy, Peter L., Mathews, Katherine D., Moore, Steven A., Wallrath, Lori L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2012
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3298278/
https://www.ncbi.nlm.nih.gov/pubmed/22186027
http://dx.doi.org/10.1093/hmg/ddr592

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