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Splice Site Mutation

Autor:	Janeka Ane Madisyn
Verfügbarkeit:	Auf Lager.
Artikelnummer:	985742
ISBN / EAN:	9786138596325

Verfügbarkeit: sofort lieferbar

34,00 €

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Produktbeschreibung

Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online. A splice site mutation is a genetic mutation that inserts or deletes 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 -globin mRNA are responsible of some cases of -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.