Fischer E, Keijzer W, Thielmann H W, Popanda O, Bohnert E, Edler L, Jung E G, Bootsma D
Mutat Res. 1985 May;145(3):217-25. doi: 10.1016/0167-8817(85)90030-6.
A new complementation group of excision-deficient xeroderma pigmentosum (XP) is described in 2 patients living in the F.R.G. Dermatological, ophthalmological and neurological symptoms of XP are presented together with DNA repair characteristics such as unscheduled DNA synthesis, colony-forming ability and alkaline elution studied in cultured fibroblasts. The results are compared to normal controls.
在两名居住在联邦德国的患者中,发现了一种新的切除缺陷型着色性干皮病(XP)互补组。文中介绍了XP患者的皮肤、眼科和神经学症状,以及在培养的成纤维细胞中研究的DNA修复特征,如非定时DNA合成、集落形成能力和碱性洗脱。并将结果与正常对照组进行了比较。