Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing

@article{Humphries2005MutationalAI,
  title={Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing},
  author={Steve E Humphries and Treena Cranston and Marcus D. Allen and Helen Middleton-Price and Maryam C. Fernandez and Victoria Senior and Emma Hawe and Andrew Iversen and Richard Wray and M. A. Crook and Anthony S Wierzbicki},
  journal={Journal of Molecular Medicine},
  year={2005},
  volume={84},
  pages={203-214}
}
As part of a randomised trial [Genetic Risk Assessment for Familial Hypercholesterolaemia (FH) Trial] of the psychological consequences of DNA-based and non-DNA-based diagnosis of FH, 338 probands with a clinical diagnosis of FH (46% with tendon xanthomas) were recruited. In the DNA-based testing arm (245 probands), using single-strand conformation polymorphism of all exons of the low-density lipoprotein receptor (LDLR) gene, 48 different pathogenic mutations were found in 62 probands (25… CONTINUE READING

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