Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

@article{Humphries2006GeneticCO,
  title={Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.},
  author={Steve E Humphries and Ros A. Whittall and Christina Hubbart and S Maplebeck and J W Astley Cooper and Anne Katherine Soutar and Rossitza P. Naoumova and Gilbert R. Thompson and Mary Seed and Paul N. Durrington and J. Philip Miller and David John Betteridge and H. Andrew W. Neil},
  journal={Journal of medical genetics},
  year={2006},
  volume={43 12},
  pages={943-9}
}
AIMS To determine the relative frequency of mutations in three different genes (low-density lipoprotein receptor (LDLR), APOB, PCSK9), and to examine their effect in development of coronary heart disease (CHD) in patients with clinically defined definite familial hypercholesterolaemia in UK. PATIENTS AND METHODS 409 patients with familial hypercholesterolaemia patients (158 with CHD) were studied. The LDLR was partially screened by single-strand conformational polymorphism (SSCP) (exons 3, 4… CONTINUE READING

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[Genetic Diagnosis in Familial Hypercholesterolemia - yes].

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