APPLICABILITY OF LDLR FLANKING MICROSATELLITE POLYMORPHISMS FOR PRENATAL-DIAGNOSIS OF HOMOZYGOUS STATE FOR FAMILIAL HYPERCHOLESTEROLEMIA

Citation
Ed. Silva et al., APPLICABILITY OF LDLR FLANKING MICROSATELLITE POLYMORPHISMS FOR PRENATAL-DIAGNOSIS OF HOMOZYGOUS STATE FOR FAMILIAL HYPERCHOLESTEROLEMIA, Clinical genetics, 53(5), 1998, pp. 375-378
Citations number
9
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00099163
Volume
53
Issue
5
Year of publication
1998
Pages
375 - 378
Database
ISI
SICI code
0009-9163(1998)53:5<375:AOLFMP>2.0.ZU;2-1
Abstract
Analysis of newly identified microsatellite polymorphisms flanking the low density lipoprotein receptor (LDLR) gene was undertaken in the ki ndred of a child with apparent homozygous LDLR deficiency. The applica bility of these approaches to prenatal diagnosis is considered and com pared with previous approaches applying functional studies of the LDLR in amniotic fibroblasts.