epidermolysis bullosa simplex

A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex

一中国家系Weber-Cockayne单纯性大疱性表皮松解症角蛋白5连接子12结构域的新变异

Keratin gene mutation in a pedigree of Dowling-Meara epidermolysis bullosa simplex

Dowling-Meara型单纯性大疱性表皮松解症一家系角蛋白基因突变研究

Analysis of clinical features , diagnosis and therapy in 17 patients with epidermolysis bullosa simplex Weber-Cockayne

单纯型大疱性表皮松解症Weber-Cockayne亚型临床特征、诊断和治疗分析

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。

Objective : To investigate the gene mutation in a pedigree of Dowling-Meara Epidermolysis Bullosa Simplex ( EBS ), confirm the type of EBS .

目的：研究一家族性DowlingMeara型单纯性大疱性表皮松解症（EBS）中的遗传基础，分析患者的基因突变及确定EBS的亚型。

Objective To identify additional epidermolysis bullosa simplex ( EBS ) mutations for studying the correlation between genotype and phenotype of EBS , and to provide hasis for genetic counselling , as well as for gene diagnosis and gene therapy .

目的鉴定更多的单纯型大疱性表皮松解症（EBS）突变以研究EBS基因型和表型关系，为EBS的遗传咨询及基因诊断和基因治疗奠定基础。