A novel mutation M-21V in exon 1 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
D001483:Base Sequence; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005787:Gene Frequency; D005819:Genetic Markers; D014644:Genetic Variation; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011973:Receptors, LDL / Q000235:genetics*
D017931:DNA Primers; D005819:Genetic Markers; D011973:Receptors, LDL