Functional analysis of LDLR promoter and
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Isabel De Castro-Orós; Sandra Pampín; Alfonso Bolado-Carrancio; Aguirre De Cubas
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Article
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2011
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John Wiley and Sons
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English
⚖ 252 KB
👁 1 views
Familial hypercholesterolemia (FH) is a dominant disorder due to mutations in the LDLR gene. Several mutations in the LDLR promoter are associated with FH. Screening of 3,705 Spanish FH patients identified 10 variants in the promoter and 5 0 UTR. Here, we analyse the functionality of six newly ident