摘要
目的:检测4例可变性红斑角化症患者的基因突变位点。方法:应用DNA直接测序法检测基因的突变。结果:发现1个新的突变位点,1个已报道突变位点。结论:错义突变c.403C>G和c.292C>T是导致该3例患者发生可变性红斑角化症的特异突变。
Objective： To identify mutations in four Chinese patients with erythrokeratodennia variabilis （EKV）. Method： Direct sequencing was used to identify mutation in GJB3 and GJB4. Results： A new mutation and a reported mutation had been found in the patients. Conclusion： It is the two missense mutations （c.403C 〉 G and c. 292C 〉 T） that causes EKV among the three patients.
出处
《中国麻风皮肤病杂志》
2011年第5期304-306,共3页
China Journal of Leprosy and Skin Diseases
