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
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.