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Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.
Tosi I, Toledo-Leiva P, Neuwirth C, Naoumova RP, Soutar AK. Tosi I, et al. Among authors: naoumova rp. Atherosclerosis. 2007 Sep;194(1):102-11. doi: 10.1016/j.atherosclerosis.2006.10.003. Epub 2006 Nov 13. Atherosclerosis. 2007. PMID: 17094996
Improved cardiovascular outcomes following temporal advances in lipid-lowering therapy in a genetically-characterised cohort of familial hypercholesterolaemia homozygotes.
Thompson GR, Seed M, Naoumova RP, Neuwirth C, Walji S, Aitman TJ, Scott J, Myant NB, Soutar AK. Thompson GR, et al. Among authors: naoumova rp. Atherosclerosis. 2015 Nov;243(1):328-33. doi: 10.1016/j.atherosclerosis.2015.09.029. Epub 2015 Sep 28. Atherosclerosis. 2015. PMID: 26433113 Free article.
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
Humphries SE, Whittall RA, Hubbart CS, Maplebeck S, Cooper JA, Soutar AK, Naoumova R, Thompson GR, Seed M, Durrington PN, Miller JP, Betteridge DJ, Neil HA; Simon Broome Familial Hyperlipidaemia Register Group and Scientific Steering Committee. Humphries SE, et al. J Med Genet. 2006 Dec;43(12):943-9. doi: 10.1136/jmg.2006.038356. J Med Genet. 2006. PMID: 17142622 Free PMC article.
71 results