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

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.