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- Title
Skipped exon in COL7A1 determines the clinical phenotypes of dystrophic epidermolysis bullosa.
- Authors
Toyonaga, E.; Nishie, W.; Komine, M.; Murata, S.; Shinkuma, S.; Natsuga, K.; Nakamura, H.; Ohtsuki, M.; Shimizu, H.
- Abstract
The article presents a case study of 38-year-old Japanese woman having the dystrophic epidermolysis bullosa (DEB). It mentions that the DNA sequencing of the 118 exons of the COL7A1 gene revealed the mutation in one allele and to assess the transcripts of mRNA the alternative splicing was done. The article discusses the immunomodulatory drugs such as cyclosporin, thalidomide and tacrolimus used for the treatment of DEB.
- Subjects
DYSTROPHY; NUCLEOTIDE sequencing; EXONS (Genetics); ALTERNATIVE RNA splicing; CYCLOSPORINS; THALIDOMIDE; THERAPEUTICS
- Publication
British Journal of Dermatology, 2015, Vol 172, Issue 4, p1141
- ISSN
0007-0963
- Publication type
Article
- DOI
10.1111/bjd.13386