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Genetic Testing for Autosomal Dominant Hypercholesterolemia



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LDLR Gene

Slide 7

December 2008

The LDLR Gene is located on chromosome 19p and contains 18 exons, and is 45 kilobases in length. There have been over 500 mutations, most of them familial, reported across the gene and new mutations are described on a regular basis. Mutations can occur anywhere in the gene, but about 20% of all LDLR mutations occur in exon 4. Mutations have also been described in the transcription regulatory regions of the promoter of LDLR.  

LDLR Gene

 


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