Genetic heterogeneity of autosomal dominant hypercholesterolemia.

  title={Genetic heterogeneity of autosomal dominant hypercholesterolemia.},
  author={Mathilde Varret and Marianne Abifadel and J-P Rab{\`e}s and Catherine Boileau},
  journal={Clinical genetics},
  volume={73 1},
Autosomal dominant hypercholesterolemia (ADH) is characterized by isolated elevation of plasmatic low-density lipoprotein cholesterol associated with high risk of premature cardiovascular complications. More than 1000 mutations in the LDLR gene and 9 in the APOB gene have been implicated. We have shown further heterogeneity with the discovery of missense mutations in the PCSK9 gene resulting in ADH. Different studies have tried to evaluate the respective contribution of mutations in each gene… CONTINUE READING


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