Go to JCI Insight
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Alerts
  • Advertising/recruitment
  • 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 ...
    • 100th Anniversary of Insulin's Discovery (Jan 2021)
    • Hypoxia-inducible factors in disease pathophysiology and therapeutics (Oct 2020)
    • Latency in Infectious Disease (Jul 2020)
    • Immunotherapy in Hematological Cancers (Apr 2020)
    • Big Data's Future in Medicine (Feb 2020)
    • Mechanisms Underlying the Metabolic Syndrome (Oct 2019)
    • Reparative Immunology (Jul 2019)
    • View all review series ...
  • Viewpoint
  • Collections
    • Recently published
    • 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
  • Recently published
  • In-Press Preview
  • Commentaries
  • Concise Communication
  • Editorials
  • Viewpoint
  • Top read articles
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Alerts
  • Advertising/recruitment
  • Subscribe
  • Contact
Human cholesterol 7α-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype
Clive R. Pullinger, … , Mary J. Malloy, John P. Kane
Clive R. Pullinger, … , Mary J. Malloy, John P. Kane
Published July 1, 2002
Citation Information: J Clin Invest. 2002;110(1):109-117. https://doi.org/10.1172/JCI15387.
View: Text | PDF
Article Genetics

Human cholesterol 7α-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype

  • Text
  • PDF
Abstract

Research Article

Authors

Clive R. Pullinger, Celeste Eng, Gerald Salen, Sarah Shefer, Ashok K. Batta, Sandra K. Erickson, Andrea Verhagen, Christopher R. Rivera, Sean J. Mulvihill, Mary J. Malloy, John P. Kane

×

Figure 1

Options: View larger image (or click on image) Download as PowerPoint
Analysis of the CYP7A1 gene. (a) DGGE analysis of exon 6 showing the 130...
Analysis of the CYP7A1 gene. (a) DGGE analysis of exon 6 showing the 1302-1303delTT mutation. Prior to DGGE, samples were digested with MboI. Lanes 1, 2, 3, and 5, unaffected individuals; lane 4, subject IV-19. Normal homoduplex bands and mutant, gel-shifted homoduplex band are marked. (b) Sequence of a portion of exon 6 showing the TT deletion, which results in a frameshift and premature stop codon. (c) Diagrammatic depiction of the CYP7A1 gene structure with normal and predicted mutant proteins.
Follow JCI:
Copyright © 2021 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)

Sign up for email alerts