Berger G M, Brown G, Henderson H E, Bonnici F
J Med Genet. 1983 Jun;20(3):189-95. doi: 10.1136/jmg.20.3.189.
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.
本文描述了一个低β脂蛋白血症家系，其中先证者表现出纯合子状态的临床和生化特征。与迄今为止报道的5例纯合子低β脂蛋白血症患者血浆中明显完全缺乏载脂蛋白B不同，我们能够在先证者血浆中检测到微量的这种蛋白质（约为正常水平的0.025%）。这一发现表明，该疾病可能不是由结构基因缺陷引起的，而可能反映了分泌功能的障碍。
