Control of Low Density Lipoprotein Receptor Gene Promoter Activity
نویسندگان
چکیده
منابع مشابه
Familial 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...
متن کاملA Novel Mutation in Exon 4 of the Low Density Lipoprotein (LDL) Receptor Gene in an Iranian Familial Hypercholesterolemia Patient
Familial hypercholesterolemia (FH) is an autosomal co-dominant disorder of lipid metabolism, caused by mutations in LDL receptor gene. The penetrance of FH is almost 100%, meaning that half of the offspring of affected parents born with disease. The patients are at risk of premature coronary heart disease (CHD). There is no report about the molecular basis of FH in Iran. Identification of mutat...
متن کاملStructure of the hamster low density lipoprotein receptor gene.
The metabolism of low density lipoprotein (LDL) in the hamster is substantially similar to that of the human. To extend the usefulness of the hamster as an experimental model, the hamster LDL receptor gene was isolated and characterized. The gene is composed of 18 exons and 17 introns which span 26 kilobases. The introns occur at precisely the same positions as those previously determined for t...
متن کاملStructure of the hamster low density lipoprotein receptor gene
The metabolism of low density lipoprotein (LDL) in the hamster is substantially similar to that of the human. To extend the usefulness of the hamster as an experimental model, the hamster LDL receptor gene was isolated and characterized. The gene is composed of 18 exons and 17 introns which span 26 kilobases. The introns occur at precisely the same positions as those previously determined for t...
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: Journal of Biological Chemistry
سال: 1989
ISSN: 0021-9258
DOI: 10.1016/s0021-9258(18)63865-7