A RFLP associated with the low-density lipoprotein receptor gene (LDLR)
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A RFLP associated with the low-density lipoprotein receptor gene (LDLR)
SOURCE AND DESCRIPTION OF CLONE: pLDLR-2HHl, a 1.9kb fragment of the 3'end of the LDL receptor c-DNA clone (Yamamoto et al, 1984). POLYMORPHISM: Ncol (CCATGG) identifies invariant bands of 9kb and 7kb, in addition to a simple two allele polymorphism with a band at either 3.4kb (Nl) or 13kb (N2) (Figure).
متن کاملFamilial Hypercholesterolemia in Iran: A Novel Frameshift Mutation in Low Density Lipoprotein Receptor (LDLR) Gene
Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR a...
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متن کاملFamilial Hypercholesterolemia in Iran: A Novel Frameshift Mutation in Low Density Lipoprotein Receptor (LDLR) Gene
Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR and hence cho...
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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 1987
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/15.1.376