Search results for: LDL RECEPTOR

• Novel Tools for Comprehensive Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants

  Publication

  • J. Jasiecki
  • M. Targońska
  • A. Janaszak-Jasiecka
  • M. Chmara
  • M. Żuk
  • L. Kalinowski
  • K. Waleron
  • B. Wasąg

  - INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - Year 2023

  Familial hypercholesterolemia (FH) is an autosomal-dominant disorder caused mainly by substitutions in the low-density lipoprotein receptor (LDLR) gene, leading to an increased risk of premature cardiovascular diseases. Tremendous advances in sequencing techniques have resulted in the discovery of more than 3000 variants of the LDLR gene, but not all of them are clinically relevant. Therefore, functional studies of selected variants...

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