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

E. R. De Oliveira E Silva, L. Haddad, P. O. Kwiterovich, S. E. Humphries, I. N.M. Day

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)375-378
Number of pages4
JournalClinical Genetics
Volume53
Issue number5
DOIs
StatePublished - May 1998

Keywords

  • Familial hypercholesterolaemia
  • Homozygous
  • LDLR
  • microsatellite

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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