Article
Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.
Clinical genetics - 1 Jun 2010
Taylor A, Wang D, Patel K, Whittall R, Wood G, Farrer M, Neely R D G, Fairgrieve S, Nair D, Barbir M, Jones J L, Egan S, Everdale R, Lolin Y, Hughes E, Cooper J A, Hadfield S G, Norbury G, Humphries S E
Abstract excerpt
Cascade testing using DNA-mutation information is now recommended in the UK for patients with familial hypercholesterolaemia (FH). We compared the detection rate and mutation spectrum in FH patients with a clinical diagnosis of definite (DFH) and possible (PFH) FH. Six hundred and thirty-five probands from six UK centres were tested for 18 low-density lipoprotein receptor gene (LDLR) mutations, APOB p.Arg3527Gln...
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