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The usefulness of the genetic markers at the low-density lipoprotein receptor gene locus for the genetic diagnosis of familial hypercholesterolemia

Choi BJ, Park HY, Kim GY, Nm SM, Cho SY, Jang YS

  • KMID: 1985204
  • Korean J Med.
  • 2000 Mar;58(3):283-292.
BACKGROUND: Familial hypercholesterolemia(FH) is an autosomal dominant metabolic disorder caused by the mutation in low density lipoprotein receptor(LDLR) gene. However, direct genetic diagnosis of LDLR gene mutation is not easily available because...
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