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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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| Autori principali: | , , , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2006
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| Soggetti: | |
| Accesso online: | 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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