Characterization of the Effects of Mutations in the Putative Branchpoint Sequence of Intron 4 on the Splicing within the Human Lecithin:cholesterol Acyltransferase (LCAT) Gene
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منابع مشابه
An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease).
The first step in the splicing of an intron from nuclear precursors of mRNA results in the formation of a lariat structure. A distinct intronic nucleotide sequence, known as the branchpoint region, plays a central role in this process. We here describe a point mutation in such a sequence. Three sisters were shown to suffer from fish-eye disease (FED), a disorder which is caused by mutations in ...
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