Tamir I, Levtow O, Lotan D, Legum C, Heldenberg D, Werbin B
Clin Genet. 1976 Feb;9(2):149-55. doi: 10.1111/j.1399-0004.1976.tb01561.x.
A family with hypobetalipoproteinaemia with 10 affected members is described. In six patients low density lipoprotein cholesterol (LDL-c) concentrations were about 10 % of normal. In four LDL-c was reduced to about 50 % of normal; these four patients probably represent the "intermediate" form of hypobetalipoproteinaemia. This variation in total cholesterol concentration and LDL-c among the affected individuals of the same family could reflect differences of expression in a single aberrant gene or additive expression of a gene at a second locus.
本文描述了一个患有低β脂蛋白血症的家族，其中有10名患者。6名患者的低密度脂蛋白胆固醇（LDL-c）浓度约为正常水平的10%。4名患者的LDL-c降至正常水平的约50%；这4名患者可能代表低β脂蛋白血症的“中间”形式。在同一家族的患病个体中，总胆固醇浓度和LDL-c的这种变化可能反映了单个异常基因表达的差异或第二个位点基因的累加表达。
