Article
Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.
Journal of human genetics - 1 Jan 2002
Takada Daisuke, Emi Mitsuru, Ezura Yoichi, Nobe Yukiko, Kawamura Katsumi, Iino Yasuhiko, Katayama Yasuo, Xin Yuanpei, Wu Lily L, Larringa-Shum Stacey, Stephenson Susan H, Hunt Steven C, Hopkins Paul N
Abstract excerpt
Lipid and lipoprotein concentrations in plasma generally reflect complex influences of multiple genetic loci. Even an autosomal dominant disorder, familial hypercholesterolemia (FH), is characterized by phenotypic heterogeneity, as low-density lipoprotein (LDL) levels vary widely within the same pedigree. Molecular screening for LDL receptor ( LDLR) mutations among 75 patients with clinically apparent FH led to...
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