Article
Altered mRNA splicing in lipoprotein disorders.
Current opinion in lipidology - 1 Apr 2011
Calandra Sebastiano, Tarugi Patrizia, Bertolini Stefano
Abstract excerpt
PURPOSE OF REVIEW: To review recent publications concerning the functional assessment on pre-mRNA splicing of genomic variants found in some monogenic dyslipidemias. Examples are derived from familial hypercholesterolemia, familial HDL deficiency/Tangier disease and familial hypobetalipoproteinemia. RECENT FINDINGS: About 5-10% of genomic variants found in familial hypercholesterolemia, FHD/Tangier disease and...
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