Functional characterization of splicing
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Aitor Etxebarria; Lourdes Palacios; Marianne Stef; Diego Tejedor; Kepa B. Uribe;
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Article
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2011
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John Wiley and Sons
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English
⚖ 569 KB
Familial hypercholesterolemia (FH) is an autosomal dominant disorder mostly caused by mutations in the LDLR gene. Although the detection of functional mutations in the LDLR gene provides an unequivocal diagnosis of the FH condition, there are many variants whose pathogenicity is still unknown. The a