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Polymorphisms of the low-density lipoprotein receptor gene in Brazilian individuals with heterozygous familial hypercholesterolemia BJMBR
Salazar,L.A.; Cavalli,S.A.; Hirata,M.H.; Diament,J.; Forti,N.; Giannini,S.D.; Nakandakare,E.R.; Bertolami,M.C.; Hirata,R.D.C..
Familial hypercholesterolemia (FH) is a metabolic disorder inherited as an autosomal dominant trait characterized by an increased plasma low-density lipoprotein (LDL) level. The disease is caused by several different mutations in the LDL receptor gene. Although early identification of individuals carrying the defective gene could be useful in reducing the risk of atherosclerosis and myocardial infarction, the techniques available for determining the number of the functional LDL receptor molecules are difficult to carry out and expensive. Polymorphisms associated with this gene may be used for unequivocal diagnosis of FH in several populations. The aim of our study was to evaluate the genotype distribution and relative allele frequencies of three...
Tipo: Info:eu-repo/semantics/other Palavras-chave: Familial hypercholesterolemia; DNA polymorphism; Atherosclerosis; Genetics; LDL receptor.
Ano: 2000 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000001100006
Registros recuperados: 1
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