Genetic polymorphisms and variants in the LDL receptor associated with familial hypercholesterolemia: cascade screening and identification of the variants 666C>A, 862G>A, 901G>A, and 919G>A of a Brazilian family

Clin Chem Lab Med. 2018 Dec 19;57(2):e23-e26. doi: 10.1515/cclm-2018-0307.
No abstract available

Keywords: cascade screening; familial hypercholesterolemia; genotyping.

Publication types

  • Letter

MeSH terms

  • Brazil
  • Female
  • Humans
  • Hyperlipoproteinemia Type II / genetics*
  • Male
  • Pedigree
  • Polymorphism, Genetic*
  • Receptors, LDL / genetics*

Substances

  • LDLR protein, human
  • Receptors, LDL