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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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Dettagli Bibliografici
Pubblicato in:Orphanet J Rare Dis
Autori principali: Janin, Alexandre, Bauer, Delphine, Ratti, Francesca, Millat, Gilles, Méjat, Alexandre
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2017
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Accesso online: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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