A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia.
Takahashi
M
M
Ikeda
U
U
Takahashi
S
S
Hattori
H
H
Iwasaki
T
T
Ishihara
M
M
Egashira
T
T
Honma
S
S
Asano
Y
Y
Shimada
K
K
D000328:Adult; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D009154:Mutation; D011973:Receptors, LDL / Q000235:genetics*; D014973:Xanthomatosis / Q000235:genetics*
D005819:Genetic Markers; D011973:Receptors, LDL