Associated Papers
Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor): Implications for the Efficacy of Evolocumab.
Thedrez A et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2018
Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry.
Loubser O et al.
Clinical Genetics, 1999
Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa.
Kotze MJ et al.
Clinical Genetics, 1998
Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple low-density lipoprotein receptor gene mutations.
Kotze MJ et al.
Pcr Methods and Applications, 1995
Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation.
Theart L et al.
Journal of Medical Genetics, 1995
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