着色性干皮病异质性的证明。

Arch Dermatol Res. 1980;269(1):81-5. doi: 10.1007/BF00404461.

Two cases of xeroderma pigmentosum were studied at the cytogenetic and molecular level. DNA repair impairment was revealed in case 1 by a nucleoid sedimentation technique whereas a half diminished rate of DNA repair could be demonstrated in case 2. This may be a further case of a xeroderma pigmentosum variant.

对两例着色性干皮病患者进行了细胞遗传学和分子水平的研究。通过类核沉降技术在病例1中发现了DNA修复损伤，而在病例2中可证明DNA修复速率减半。这可能是另一例着色性干皮病变异型病例。