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1.Conclusion There is K14 1A domain gene mutation in this DM-EBS pedigree.
结论本 DM-EBS家系存在 K14的基因突变。收藏指正
2.Objective To study the gene mutation in a pedigree with Dowling-Meara type epidermolysis bullosa simplex (DM-EBS).
目的研究 Dowling-Meara亚型单纯型大疱性表皮松解症 (DM-EBS)一家系的基因突变。收藏指正
3.Methods: (1) Using polymerase chain reaction(PCR) combined with single strand conformation polymorphism (SSCP) method and DNA sequencing to detect the point mutation of keratin 14 in a pedigree of DM-EBS.
(1)采用多聚酶链反应(PCR)、单链构象多态性(SSCP)分析、DNA直接测序方法,对DM-EBS一家系角蛋白14(K14)进行基因分析。收藏指正
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