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Applicability of LDLR flanking microsatellite polymorphisms for prenatal diagnosis of homozygous state for familial hypercholesterolemia.

De Oliveira e Silva, ER; Haddad, L; Kwiterovich, PO; Humphries, SE; Day, IN; (1998) Applicability of LDLR flanking microsatellite polymorphisms for prenatal diagnosis of homozygous state for familial hypercholesterolemia. Clin Genet , 53 (5) pp. 375-378.

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Abstract

Analysis of newly identified microsatellite polymorphisms flanking the low density lipoprotein receptor (LDLR) gene was undertaken in the kindred of a child with apparent homozygous LDLR deficiency. The applicability of these approaches to prenatal diagnosis is considered and compared with previous approaches applying functional studies of the LDLR in amniotic fibroblasts.

Type: Article
Title: Applicability of LDLR flanking microsatellite polymorphisms for prenatal diagnosis of homozygous state for familial hypercholesterolemia.
Location: Denmark
Keywords: Adult, Child, Preschool, Female, Genes, Genes, Dominant, Genetic Diseases, Inborn, Homozygote, Humans, Hyperlipoproteinemia Type II, Male, Microsatellite Repeats, Pedigree, Polymorphism, Genetic, Receptors, LDL
URI: http://discovery.ucl.ac.uk/id/eprint/97259
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