Ontology highlight
ABSTRACT:
SUBMITTER: Gao J
PROVIDER: S-EPMC4665702 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Gao Jiajia J Wang Xuebin X Zheng Fang F Dong Sufang S Qiu Xueping X
Experimental and therapeutic medicine 20151016 6
The aim of the present study was to identify the causative gene defects associated with epidermolysis bullosa simplex (EBS) in a pedigree. The diagnosis of EBS was confirmed in two patients from that pedigree based on the clinical manifestations, histopathological examination of the skin and family history. Blood samples were collected from 6 family members and 100 heathy controls, and genomic DNA and RNA were extracted. Mutation analysis of the keratin 5 gene (KRT5) was conducted using polymera ...[more]