A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus

A-type lamins, the intermediate filament proteins participating in nuclear structure and function, are encoded by LMNA. LMNA mutations can lead to laminopathies such as lipodystrophies, premature aging syndromes (progeria) and muscular dystrophies. Here, we identified a novel heterozygous LMNA p.R38...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Barateau, Alice, Vadrot, Nathalie, Vicart, Patrick, Ferreiro, Ana, Mayer, Michèle, Héron, Delphine, Vigouroux, Corinne, Buendia, Brigitte
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5268432/
https://ncbi.nlm.nih.gov/pubmed/28125586
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0169189
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