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Science 29 July 1988:
Vol. 241. no. 4865, pp. 591 - 593
DOI: 10.1126/science.3399894
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Articles

Science, Vol 241, Issue 4865, 591-593
Copyright © 1988 by American Association for the Advancement of Science

articles

Low plasma cholesterol levels caused by a short deletion in the apolipoprotein B gene

SG Young, ST Northey, and BJ McCarthy

Gladstone Foundation Laboratories for Cardiovascular Disease, University of California, San Francisco 94140-0608.

Familial hypobetalipoproteinemia is a syndrome in which the plasma levels of apolipoprotein B (apo-B) and cholesterol are abnormally low. A truncated species of apo-B was identified in the plasma lipoproteins of members of a kindred with familial hypobetalipoproteinemia. DNA sequencing studies on genomic clones and enzymatically amplified genomic DNA samples revealed a four-base pair deletion in the apo-B gene. This short deletion, which results in a frameshift and a premature stop codon, accounts for the truncated apo-B species and explains the low apo-B and low cholesterol levels in this family.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Abetalipoproteinemia Caused by Maternal Isodisomy of Chromosome 4q Containing an Intron 9 Splice Acceptor Mutation in the Microsomal Triglyceride Transfer Protein Gene.
X. P. Yang, A. Inazu, K. Yagi, K. Kajinami, J. Koizumi, and H. Mabuchi (1999)
Arterioscler. Thromb. Vasc. Biol. 19, 1950-1955
   Abstract »    Full Text »    PDF »
A Truncated Species of Apolipoprotein B (B-38.7) in a Patient With Homozygous Hypobetalipoproteinemia Associated With Diabetes Mellitus.
K. Ohashi, S. Ishibashi, M. Yamamoto, J.-i. Osuga, Y. Yazaki, S. Yukawa, and N. Yamada (1998)
Arterioscler. Thromb. Vasc. Biol. 18, 1330-1334
   Abstract »    Full Text »    PDF »
Reading-frame Restoration by Transcriptional Slippage at Long Stretches of Adenine Residues in Mammalian Cells.
M. F. Linton, M. Raabe, V. Pierotti, and S. G. Young (1997)
J. Biol. Chem. 272, 14127-14132
   Abstract »    Full Text »    PDF »
Heritable allele-specific differences in amounts of apoB and low-density lipoproteins in plasma.
D Gavish, E. Brinton, and J. Breslow (1989)
Science 244, 72-76
   Abstract »    PDF »


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