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- Title
Compound heterozygosity of the novel −186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa.
- Authors
Ritelli, M.; Chiarelli, N.; Quinzani, S.; Dordoni, C.; Venturini, M.; Calzavara ‐ Pinton, P.; Colombi, M.
- Abstract
The article presents a case study an Italian patient with dystrophic epidermolysis bullosa (DEB) and history of bilateral mitten hand surgery, obstructive sleep apnoea syndrome and mild dysphagia of solid food. The pat ient was analyzed with COL7A1 mutational screening and it was found that the expression of wild-type protein is not sufficient for dermal epidermal adhesion.
- Subjects
SLEEP apnea syndromes; EPIDERMOLYSIS bullosa; MITTENS; DEGLUTITION disorders; ADHESION
- Publication
British Journal of Dermatology, 2013, Vol 168, Issue 4, p904
- ISSN
0007-0963
- Publication type
Article
- DOI
10.1111/bjd.12063