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Jelassi A.,Research Unit of Genetic and Biologic Factors of Atherosclerosis | Najah M.,Research Unit of Genetic and Biologic Factors of Atherosclerosis | Slimani A.,Research Unit of Genetic and Biologic Factors of Atherosclerosis | Jguirim I.,Research Unit of Genetic and Biologic Factors of Atherosclerosis | And 2 more authors.
Current Genomics | Year: 2013

Autosomal dominant hypercholesterolemia (ADH) is characterized by an isolated elevation of plasmatic low-density lipoprotein (LDL), which predisposes to premature coronary artery disease (CAD) and early death. ADH is largely due to mutations in the low-density lipoprotein receptor gene (LDLR), the apolipoprotein B-100 gene (APOB), or the proprotein convertase subtilisin/kexin type 9 (PCSK9). Early diagnosis and initiation of treatment can modify the disease progression and its outcomes. Therefore, cascade screening protocol with a combination of plasmatic lipid measurements and DNA testing is used to identify relatives of index cases with a clinical diagnosis of ADH. In Tunisia, an attenuated phenotypic expression of ADH was previously reported, indicating that the establishment of a special screening protocol is necessary for this population. © 2013 Bentham Science Publishers.

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