Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1983 Jun;20(3):189-95.
doi: 10.1136/jmg.20.3.189.

Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinaemia: implications for aetiology

G M Berger, G Brown, H E Henderson, F Bonnici
Case Reports

Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinaemia: implications for aetiology

G M Berger et al. J Med Genet. 1983 Jun.

Abstract

A hypobetalipoproteinaemic kindred is described in which the proband manifested the clinical and biochemical features of the homozygous state. Unlike the apparent complete absence of apolipoprotein B in the plasma of the five cases of homozygous hypobetalipoproteinaemia reported so far, we were able to demonstrate minute quantities of this protein (approximately 0.025% of normal) in the plasma of the proband. This finding suggests that the disorder may not result from a structural gene defect but may rather reflect a failure of secretion.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

References

    1. Anal Biochem. 1966 Apr;15(1):45-52 - PubMed
    1. Nature. 1970 Aug 15;227(5259):680-5 - PubMed
    1. Clin Chem. 1972 Jun;18(6):499-502 - PubMed
    1. Metabolism. 1974 Aug;23(8):779-91 - PubMed
    1. J Lab Clin Med. 1975 Apr;85(4):556-65 - PubMed

Publication types

LinkOut - more resources