A single homozygous point mutation in a 3′untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy

Mutations in the SEPN1 gene encoding the selenoprotein N (SelN) have been described in different congenital myopathies. Here, we report the first mutation in the selenocysteine insertion sequence (SECIS) of SelN messenger RNA, a hairpin structure located in the 3′ untranslated region, in a patient p...

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Autores principales: Allamand, Valérie, Richard, Pascale, Lescure, Alain, Ledeuil, Céline, Desjardin, Delphine, Petit, Nathalie, Gartioux, Corine, Ferreiro, Ana, Krol, Alain, Pellegrini, Nadine, Urtizberea, J Andoni, Guicheney, Pascale
Formato: Artigo
Lenguaje:Inglês
Publicado: 2006
Materias:
Scientific Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1456920/
https://ncbi.nlm.nih.gov/pubmed/16498447
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/sj.embor.7400648
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