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Abstract: P834 MUTATIONAL ANALYSIS IN NORTHWESTERN GREECE PATIENTS WITH CLINICAL DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLEMIA

✍ Scribed by Diakou, M; Miltiadous, G; Xenophontos, S; Cariolou, M; Elisaf, M


Book ID
122685843
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
85 KB
Volume
10
Category
Article
ISSN
1567-5688

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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