ArticleThe Journal of clinical investigation1988
Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia.
Article in The Journal of clinical investigation, 1988. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 69 citations in OpenAlex.
- Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.American journal of human genetics · 1995Article
- Secretion of apolipoprotein B-containing lipoproteins from HeLa cells is dependent on expression of the microsomal triglyceride transfer protein and is regulated by lipid availability.Proceedings of the National Academy of Sciences of the United States of America · 1994Article
- Translocation of apolipoprotein B across the endoplasmic reticulum is blocked in a nonhepatic cell line.Proceedings of the National Academy of Sciences of the United States of America · 1992Article
- Effect of intestinal chylomicron secretory blockade on apolipoprotein synthesis in the newborn piglet.The Biochemical journal · 1992Article
- Article
- Familial defective apolipoprotein B-100: a common cause of primary hypercholesterolemia.The Clinical investigator · 1992Review
- Patterns of association between genetic variability in apolipoprotein (apo) B, apo AI-CIII-AIV, and cholesterol ester transfer protein gene regions and quantitative variation in lipid and lipoprotein traits: influence of gender and exogenous hormones.American journal of human genetics · 1992Article
- Anderson's disease: genetic exclusion of the apolipoprotein-B gene in two families.The Journal of clinical investigation · 1991Article
- Variation at the apolipoprotein (apo) AI-CIII-AIV gene cluster and apo B gene loci is associated with lipoprotein and apolipoprotein levels in Italian children.American journal of human genetics · 1990Article
- Exclusion of linkage between the human apolipoprotein B gene and abetalipoproteinemia.American journal of human genetics · 1990Article
- RNA editing: a novel mechanism for the regulation of dietary cholesterol absorption. The Humphry Davy Rolleston lecture 1989.Journal of the Royal College of Physicians of London · 1990Article
- Genetic basis of lipoprotein disorders.The Journal of clinical investigation · 1989Review
- Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Abetalipoproteinemia (ABL) is a recessive disorder in which affected individuals have extremely low or undetectable levels of serum apo B-containing lipoproteins. Using restriction fragment length polymorphisms, we have studied two families, each with two children with classical ABL born of normal parents. In each of these families, the two affected children have inherited different apo B alleles from at least one parent, whereas the siblings would be anticipated to share common alleles if this disorder were due to an apo B gene mutation. This linkage study shows that in these families, the apo B gene is discordant with ABL and therefore the disorder is caused by a defect in another gene, which is important for the normal synthesis or secretion of apo B-containing lipoproteins from both the liver and intestine.
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