Identification of a double mutation in the low-density lipoprotein receptor gene causing familial hypercholesterolemia.
Lombardi
P
P
TNO-PG, Gaubius Laboratory, Leiden, The Netherlands.
Kamerling
S W
SW
Defesche
J C
JC
Kastelein
J J
JJ
Havekes
L M
LM
D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005796:Genes; D008040:Genetic Linkage; D006579:Heterozygote; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011973:Receptors, LDL / Q000235:genetics*; D017384:Sequence Deletion
D011973:Receptors, LDL