Analysis of two duplications of the LDL receptor gene affectingintracellular transport, catabolism, and surface binding of the LDLreceptor
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Endocrinology,Biochemistry
Reference25 articles.
1. Familial hypercholesterolemia;Goldstein,1995
2. Software and data base for the analysis ofmutations in the human LDL-receptor;Warrett;NucleicAcids Res.,1997
3. Characterization of three mutations of the lowdensity lipoprotein receptor gene in Italian patients with familialhypercholesterolemia;Lelli;Arterioscler.Thromb.,1991
4. Occurrence of multiple aberrantly splicedmRNAs of the LDL-receptor gene upon a donor splice site mutation that causesfamilial hypercholesterolemia (FH-Benevento);Lelli;J. Lipid Res.,1995
5. Common low density lipoprotein receptormutations in the French Canadian population;Leitersdorf;J. Clin. Invest.,1990
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