title: The LDLR variant T705I does not cause the typical phenotype of familial hypercholesterolaemia.
authors.forename: Colin A
authors.initials: CA
authors.lastname: Graham
authors.forename: William T
authors.initials: WT
authors.lastname: Wright
authors.forename: Brian P
authors.initials: BP
authors.lastname: McIlhatton
authors.forename: Ian S
authors.initials: IS
authors.lastname: Young
authors.forename: D Paul
authors.initials: DP
authors.lastname: Nicholls
mesh_terms: D000293:Adolescent; D005820:Genetic Testing; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D011973:Receptors, LDL