Jan 9, 2003 - Pulse-chase analysis showed that secre- .... status of the individual subjects is indicated in the key to the figure. Although not tested, subjects II:3, II:4, and II:5 are predicted to be obligate heterozygotes based on the autosomal co-dominant inheritance ...... Data from a typical pulse-chase experiment using.
THE JOURNAL OF BIOLOGICAL CHEMISTRY © 2003 by The American Society for Biochemistry and Molecular Biology, Inc.
Vol. 278, No. 15, Issue of April 11, pp. 13442–13452, 2003 Printed in U.S.A.
A Novel Nontruncating APOB Gene Mutation, R463W, Causes Familial Hypobetalipoproteinemia* Received for publication, January 9, 2003 Published, JBC Papers in Press, January 27, 2003, DOI 10.1074/jbc.M300235200
John R. Burnett‡§¶, Jing Shan§储, Brooke A. Miskie**, Amanda J. Whitfield‡, Jane Yuan储‡‡, Khai Tran储, C. James McKnight§§, Robert A. Hegele**¶¶, and Zemin Yao储 储储 From the ‡Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital and Department of Pathology, University of Western Australia, Perth WA 6847, Western Australia, Australia, the 储Lipoprotein and Atherosclerosis Group, Department of Pathology and Laboratory Medicine, and Department of Biochemistry, Microbiology and Immunology, University of Ottawa Heart Institute, Ottawa, Ontario K1Y 4W7, Canada, the **Robarts Research Institute, London, Ontario N6A 5K8, Canada, and the §§Department of Physiology and Biophysics, Boston University School of Medicine, Boston, Massachusetts 02118-2526
Familial hypobetalipoproteinemia (FHBL), an autosomal co-dominant disorder, is associated with reduced plasma concentrations (
