A novel V415A mutation in exon 9 of the low density lipoprotein receptor gene causing familial hypercholesterolemia.
Lombardi
P
P
TNO-PG, Gaubius Laboratory, Leiden, The Netherlands.
Defesche
J C
JC
Kamerling
S W
SW
Kastelein
J J
JJ
Havekes
L M
LM
D002874:Chromosome Mapping; D005091:Exons; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D009154:Mutation; D011973:Receptors, LDL / Q000235:genetics*
D005819:Genetic Markers; D011973:Receptors, LDL