Identification of mutations in theCOL7A1gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency
| Autor: | Liran Horev, B. A. Bagheri, P. Schneiderman, Angela M. Christiano, Marija Tadin-Strapps, D. R. Bickers, T. Waran Lalin, Amalia Martinez-Mir, Marc E. Grossman |
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| Rok vydání: | 2003 |
| Předmět: |
Proband
Aortic valve Mutation Pathology medicine.medical_specialty Splice site mutation integumentary system business.industry Epidermolysis bullosa dystrophica Dermatology medicine.disease_cause medicine.disease medicine.anatomical_structure Gene duplication Genotype otorhinolaryngologic diseases medicine COL7A1 Gene business |
| Zdroj: | Clinical and Experimental Dermatology. 28:80-84 |
| ISSN: | 0307-6938 |
| DOI: | 10.1046/j.1365-2230.2003.01190.x |
| Popis: | We report the clinical and molecular findings in a patient with a mild form of recessive dystrophic epidermolysis bullosa and aortic insufficiency. To our knowledge, this is the first report of association between dystrophic epidermolysis bullosa and abnormalities of the aortic valve. Analysis of the COL7A1 gene has revealed two new mutations, a 20-bp duplication and a splice site mutation. |
| Databáze: | OpenAIRE |
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