[1] 吴安,李冠群,朱学骏.手足复发型大疱性表皮松解症角蛋白 5基因突变位点的检测.中华皮肤科杂志,1997, 30:221-223.
[2] 董慧婷,李冠群,陈喜雪,等.两个家系单纯型大疱性表皮松解症 Weber Cockayne亚型的基因突变.中华皮肤科杂志,1999, 32:367-369.
[3] 李冠群,吴安,朱学骏.PCR-DNA直接测序检测 1例单纯型大疱性表皮松解症 Weber Cockayne亚型 (WC-EBS)患者角蛋白 K5基因点突变.临床皮肤科杂志,1997, 26:219-221.
[4] 李冠群,吴安,马玲蕾,等.聚合酶链反应-DNA测序检测大疱型先天性鱼鳞病样红皮病家系角蛋白 K10基因点突变.中华皮肤科杂志,1997, 30:374-376.
[5] Epstein EH Jr. Molecular genetics of epidermolysis bullosa. Science, 1992,256:799-804.
[6] Lane EB, Rugg EL, Navsaria H, et al. A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature, 1992,356:244-246.
[7] Stephens K, Sybert VP, Wijsman EM, et al. A keratin 14 Mutational hot spot of epidermolysis bullosa simplex, Dowling Meara:implications for diagnosis. J Invest Dermatol, 1993,101:240-243.
[8] Rothnagel JA, Dominey AM, Dempsey LD, et al. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science, 1992,257:1128-1130.
[9] Chipev CC, Korge BP, Markova N, et al. A leucine:proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell, 1992,70:821-828. |
