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OverviewPlease 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 I -globin mRNA are responsible of some cases of I -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. Full Product DetailsAuthor: Janeka Ane MadisynPublisher: Crypt Publishing Imprint: Crypt Publishing Dimensions: Width: 15.20cm , Height: 0.40cm , Length: 22.90cm Weight: 0.131kg ISBN: 9786138596325ISBN 10: 6138596323 Pages: 80 Publication Date: 12 November 2011 Audience: General/trade , General Format: Paperback Publisher's Status: Active Availability: Not yet available This item is yet to be released. You can pre-order this item and we will dispatch it to you upon its release. Table of ContentsReviewsAuthor InformationTab Content 6Author Website:Countries AvailableAll regions |