title: A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia.
authors: M
authors: M
authors: Takahashi
authors: U
authors: U
authors: Ikeda
authors: S
authors: S
authors: Takahashi
authors: H
authors: H
authors: Hattori
authors: T
authors: T
authors: Iwasaki
authors: M
authors: M
authors: Ishihara
authors: T
authors: T
authors: Egashira
authors: S
authors: S
authors: Honma
authors: Y
authors: Y
authors: Asano
authors: K
authors: K
authors: Shimada
mesh_terms: 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*
chemical_list: D005819:Genetic Markers; D011973:Receptors, LDL