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.
|Original language||English (US)|
|Number of pages||4|
|State||Published - May 1998|
- Familial hypercholesterolaemia
ASJC Scopus subject areas