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- 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 identify gene mutation in a family with Weber-Cockayne type epidermolysis bullosa simplex (WC-EBS). 鉴定单纯型大疱性表皮松解症Weber-Cockayne亚型一家系中的基因突变位点。
- Objective:To identify gene mutation in a family with Weber-Cockayne type epidermolysis bullosa simplex(EBS-WC). 目的:研究Weber-Cockayne亚型单纯型大疱性表皮松解症(EBS-WC)一家系的基因突变,并进行产前诊断。
- Objective: (1) To study the gene mutation in a pedigree with Dowling-Meara type epidermolysis bullosa simplex(DW-EBS) of monogenic disease. 寻找单基因病痒疹样亚型单纯型大疱性表皮松解症(DM-EBS)一家系的基因突变位点。
- 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。
- Epidermolysis bullosa simplex of the hands and feet 手和脚单纯大疱性表皮松解
- localized epidermolysis bullosa simplex 局限性单纯性大疱性表皮松解
- dominant epidermolysis bullosa simplex 显性单纯性大疱性表皮松解症
- dominant epidermolysis bullosa simplex kobner 显性单纯性大疱性表皮松解症, 科布内(氏)变型
- dominant epidermolysis bullosa simplex Ogna 显性单纯性大疱性表皮松解症, 奥格纳(氏)变型
- generalized epidermolysis bullosa simplex 全身性单纯性大疱性表皮松解
- Autosomal dominant epidermolysis bullosa simplex 单纯常染色体显性大疱性表皮松解
- dominant epidermolysis bullosa simplex WeberCockayne 显性单纯性大疱性表皮松解, 韦-科二氏(综合征)
- dominant epidermolysis bullosa simplex with mottled pigmentation 显性单纯性伴有斑点状色素沉着的大疱性表皮松解症
- Keywords epidermolysis bullosa simplex;clinical features;diagnosis;therapy; 表皮松解症;单纯型大疱性;临床表现;诊断;治疗;
- epidermolysis bullosa simplex (拉)单纯性大疱性表皮松解
- A case of pretibial epidermolysis bullosa with pemphigus foliaceus is reported. 报告胫前大疱性表皮松解症并发落叶型天疱疮1例。
- Objective To identify the COL7A1 gene mutation in a family with dy strophic epidermolysis bullosa pruriginosa. 目的鉴定一痒疹样营养不良型大疱性表皮松解症家系的基因突变,为进一步开展基因诊断和基因治疗奠定基础。
- Objective:Analysis characteristic and regularity of epidermolysis bullosa type eruption. 目的:探讨大疱性表皮松解型药疹的发生特点及一般规律。
- Preclinical progress has been achieved in the treatment of wounds, epidermolysis bullosa and ichthyosis. 前期的临床实验在治疗创伤，大疱性表皮松解症和鱼鳞病上已经取得了进展.
