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Autor:
Talmud, PJ, Shah, S, Whittall, R, Futema, M, Howard, P, Cooper, JA, Harrison, SC, Li, K, Drenos, F, Karpe, F, W Neil, HA, Descamps, OS, Langenberg, C, Lench, N, Kivimaki, M, Whittaker, J, Hingorani, AD, Kumari, M, Humphries, SE
Publikováno v:
Lancet (London, England). 381(9874)
Summary Background Familial hypercholesterolaemia is a common autosomal-dominant disorder caused by mutations in three known genes. DNA-based cascade testing is recommended by UK guidelines to identify affected relatives; however, about 60% of patien