Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 2 of 2 for “"nonsense-Mutationen"”.
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Molekulare Ursachen des hereditären Angioödems
Mutationen im C1-Inhibitor(C1-INH)-Gen manifestieren sich in Form autosomal dominant vererbter Angioödeme (hereditäres Angioödem (HAE)), wobei zwei Typen unterschieden werden. Während der HAE-Typ I mit einer Häufigkeit von 85% auftritt und durch erniedrigte C1-INH-Plasmaspiegel mit daraus …
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Isolation and characterization of Hupf1-containing protein complexes and their role in nonsense-mediated mRNA decay
… codons (PTCs) are usually degraded by the nonsense-mediated mRNA decay (NMD) pathway. The mechanism of NMD in mammals is largely unknown. The cytoplasmic protein Hupf1 was the only trans-acting factor of NMD in mammals that was known at the beginning of this study. In order to identify and …