PT - JOURNAL ARTICLE AU - G M Berger AU - G Brown AU - H E Henderson AU - F Bonnici TI - Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinaemia: implications for aetiology. AID - 10.1136/jmg.20.3.189 DP - 1983 Jun 01 TA - Journal of Medical Genetics PG - 189--195 VI - 20 IP - 3 4099 - http://jmg.bmj.com/content/20/3/189.short 4100 - http://jmg.bmj.com/content/20/3/189.full SO - J Med Genet1983 Jun 01; 20 AB - 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.