Go to JCI Insight
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Alerts
  • Advertising
  • Job board
  • Subscribe
  • Contact
  • Current issue
  • Past issues
  • By specialty
    • COVID-19
    • Cardiology
    • Gastroenterology
    • Immunology
    • Metabolism
    • Nephrology
    • Neuroscience
    • Oncology
    • Pulmonology
    • Vascular biology
    • All ...
  • Videos
    • Conversations with Giants in Medicine
    • Author's Takes
  • Reviews
    • View all reviews ...
    • Aging (Upcoming)
    • Next-Generation Sequencing in Medicine (Jun 2022)
    • New Therapeutic Targets in Cardiovascular Diseases (Mar 2022)
    • Immunometabolism (Jan 2022)
    • Circadian Rhythm (Oct 2021)
    • Gut-Brain Axis (Jul 2021)
    • Tumor Microenvironment (Mar 2021)
    • View all review series ...
  • Viewpoint
  • Collections
    • In-Press Preview
    • Commentaries
    • Concise Communication
    • Editorials
    • Viewpoint
    • Top read articles
  • Clinical Medicine
  • JCI This Month
    • Current issue
    • Past issues

  • Current issue
  • Past issues
  • Specialties
  • Reviews
  • Review series
  • Conversations with Giants in Medicine
  • Author's Takes
  • In-Press Preview
  • Commentaries
  • Concise Communication
  • Editorials
  • Viewpoint
  • Top read articles
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Alerts
  • Advertising
  • Job board
  • Subscribe
  • Contact
Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1
Emily R. Eden, … , Rossitza P. Naoumova, Anne K. Soutar
Emily R. Eden, … , Rossitza P. Naoumova, Anne K. Soutar
Published December 1, 2002
Citation Information: J Clin Invest. 2002;110(11):1695-1702. https://doi.org/10.1172/JCI16445.
View: Text | PDF
Article Cardiology

Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1

  • Text
  • PDF
Abstract

Research Article

Authors

Emily R. Eden, Dilipkumar D. Patel, Xi-Ming Sun, Jemima J. Burden, Michael Themis, Matthew Edwards, Philip Lee, Clare Neuwirth, Rossitza P. Naoumova, Anne K. Soutar

×

Figure 1

Options: View larger image (or click on image) Download as PowerPoint
Pedigrees of family 1 (a) and family 2 (b). The plasma cholesterol conce...
Pedigrees of family 1 (a) and family 2 (b). The plasma cholesterol concentration (mmol/l) is shown below each symbol. Filled symbols, homozygous for the Q136X (a, family 1) or the delGG86,87 (b, family 2) mutations in ARH1; half-filled symbols, heterozygous carriers of the mutation, confirmed by sequencing amplified fragments of genomic DNA. Individuals whose cells were analyzed for LDL receptor activity or ARH1 mRNA levels are identified by a number in italics.

Copyright © 2022 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)

Sign up for email alerts