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Nuclear envelopathies: a complex LINC between nuclear envelope and pathology

Since the identification of the first disease causing mutation in the gene coding for emerin, a transmembrane protein of the inner nuclear membrane, hundreds of mutations and variants have been found in genes encoding for nuclear envelope components. These proteins can be part of the inner nuclear m...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Janin, Alexandre, Bauer, Delphine, Ratti, Francesca, Millat, Gilles, Méjat, Alexandre
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5577761/
https://ncbi.nlm.nih.gov/pubmed/28854936
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0698-x
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