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- Splice_site_mutation abstract "A splice site mutation is a genetic mutation that inserts, deletes or changes a number of nucleotides in the specific site at which splicing of an intron takes place during the processing of precursor messenger RNA into mature messenger RNA. The abolishment of the splicing site results in one or more introns remaining in mature mRNA and may lead to the production of aberrant proteins. Several genetic diseases may be the result of splice site mutations. For example, mutations that cause the incorrect splicing of β-globin mRNA are responsible of some cases of β-thalassemia. Another Example is TTP (thrombotic thrombocytopenic purpura). TTP is caused by deficiency of ADAMTS-13. A splice site mutation of ADAMTS-13 gene can therefore cause TTP.Splice site mutations can be analyzed using information theory.".
- Splice_site_mutation wikiPageID "5707633".
- Splice_site_mutation wikiPageRevisionID "555226728".
- Splice_site_mutation hasPhotoCollection Splice_site_mutation.
- Splice_site_mutation subject Category:Gene_expression.
- Splice_site_mutation subject Category:Mutation.
- Splice_site_mutation comment "A splice site mutation is a genetic mutation that inserts, deletes or changes a number of nucleotides in the specific site at which splicing of an intron takes place during the processing of precursor messenger RNA into mature messenger RNA. The abolishment of the splicing site results in one or more introns remaining in mature mRNA and may lead to the production of aberrant proteins. Several genetic diseases may be the result of splice site mutations.".
- Splice_site_mutation label "Splice site mutation".
- Splice_site_mutation sameAs m.0f09cs.
- Splice_site_mutation sameAs Q5487490.
- Splice_site_mutation sameAs Q5487490.
- Splice_site_mutation wasDerivedFrom Splice_site_mutation?oldid=555226728.
- Splice_site_mutation isPrimaryTopicOf Splice_site_mutation.