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