Eber S W, Lande W M, Iarocci T A, Mentzer W C, Höhn P, Wiley J S, Schröter W
Kinderklinik und Poliklinik, Georg-August-Universität Göttingen, F.R.G.
Br J Haematol. 1989 Jul;72(3):452-5. doi: 10.1111/j.1365-2141.1989.tb07731.x.
We studied the RBC membrane proteins of four patients, including a mother and daughter, with hereditary stomatocytosis. One- and two-dimensional gel electrophoresis revealed that a 28 kDa integral protein, present in normal RBC membranes, was absent in all four patients. This abnormality, reported once previously (Lande et al, 1982), appears to be a characteristic feature of hereditary stomatocytosis, and may be related to the underlying permeability defect in this disorder.
我们研究了4例遗传性口形红细胞增多症患者（包括一位母亲和她的女儿）的红细胞膜蛋白。一维及二维凝胶电泳显示，正常红细胞膜中存在的一种28 kDa整合蛋白在所有4例患者中均缺失。这种异常情况曾有过一次报道（兰德等人，1982年），似乎是遗传性口形红细胞增多症的一个特征性表现，并且可能与该疾病潜在的通透性缺陷有关。
