Article
In silico analysis of all point mutations on the 2B domain of K5/K14 causing epidermolysis bullosa simplex: a genotype-phenotype correlation.
Molecular bioSystems - 1 Oct 2014
Banerjee Santasree, Wu Qian, Yu Ping, Qi Ming, Li Chen
Abstract excerpt
Epidermolysis bullosa simplex (EBS) is a genodermatosis caused by mutations in keratins 5 and 14 (K5 and K14), which leads to fragility of basal keratinocytes and eventually epidermal cytolysis and blistering. Depending upon the severity of symptoms, EBS is classified into three major subtypes. In order of increasing severity these classes are EBS, localized (EBS-loc), EBS, other generalized (EBS, gen-nonDM), and...
Topics
- Alleles
- Amino Acid Sequence
- Amino Acid Substitution
- Computational Biology
- Epidermolysis Bullosa Simplex
- Genetic Association Studies
- Humans
- Keratin-14
- Keratin-5
- Models, Molecular
- Molecular Sequence Data
- Phenotype
- Point Mutation