Remsen J F, Cerutti P A
Proc Natl Acad Sci U S A. 1976 Jul;73(7):2419-23. doi: 10.1073/pnas.73.7.2419.
The capacity of preparations of skin fibroblasts from normal individuals and patients with Fanconi's anemia to excise gamma-ray products of the 5,6-dihydroxydihydrothymine type from exogenous DNA was investigated. The excision capacity of whole-cell homogenates of fibroblasts from two of four patients with Fanconi's anemia was substantially below normal. This repair deficiency was further pronounced in nuclear preparations from cells of the same two patients.
研究了正常个体和范可尼贫血患者的皮肤成纤维细胞制剂从外源DNA中切除5,6 - 二羟基二氢胸腺嘧啶类型的γ射线产物的能力。四名范可尼贫血患者中有两名患者的成纤维细胞全细胞匀浆的切除能力显著低于正常水平。在这两名患者细胞的细胞核制剂中,这种修复缺陷更为明显。