Please use this identifier to cite or link to this item: https://dspace.ctu.edu.vn/jspui/handle/123456789/73543
Title: Identification of a de novo mutation in KRT5 gene underlying epidermolysis bullosa simplex by whole exome sequencing in a Vietnamese patient
Authors: Ma, Thi Huyen Thuong
Dang, Tien Truong
Nguyen, Hai Ha
Nguyen, Dang Ton
Keywords: Epidermolysis bullosa simplex
KRT5
Whole exome sequencing
Issue Date: 2021
Series/Report no.: Vietnam Journal of Biotechnology;No. 02 .- P.223-228
Abstract: Epidermolysis bullosa simplex (EBS) is a group of epidemiolysis bullosa (EB) and accounts for 75-85% EB cases. Most EBS patients are caused by mutations in KRT5 or KRT14, encoding for keralin 5 and keratin 14, respectively, which impair the structural entirety of paired intermediate filaments expressed in the fracture of basal keratinocytes and subsequent blistering of the epithelium. This study aimed to identify the causative mulation in a Vietnamese EB case.
URI: https://dspace.ctu.edu.vn/jspui/handle/123456789/73543
ISSN: 1811-4989
Appears in Collections:Công nghệ sinh học

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