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 “"Pseudoexon"”.
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Identifying Novel Causes of X-Linked Heterotaxy
… the inclusion of an intronic sequence as a pseudoexon during RNA splicing. Further analysis revealed the variant profoundly altered RNA splicing, resulting in the production of several novel ZIC3 isoforms and reduced expression of normal ZIC3 protein. These novel isoforms displayed abnormal …
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Studio in vitro dell'espressione di varianti del gene CFTR con ruolo patofisiologico non ancora definito
… alternative splicing products include a 104-bp pseudoexon and a 65-bp pseudoexon located between exon 11 and exon 12. Allele-specific measurement of wild-type and aberrant splicings from the nasal brushing RNA of the probands showed that the c.1584+18672 A>G mutation did not completely abolish …