A Recurrent Nonsense Mutation Occurring as a de novo Event in a Patient with Recessive Dystrophic Epidermolysis Bullosa
- Author
- CUADRADO-CORRALES, N1 5 ; SANCHEZ-JIMENO, C1 5 ; GARCIA, M1 5 ; AYUSO, C2 5 ; DE LUCAS, R3 ; VICARIO, J. L4 ; CONTI, C. J7 ; ZAMBRUNO, G8 ; ESCAMEZ, M. J1 5 6 ; DEL RIO, M1 5 6
[1] Basic Research Department, Epithelial Biomedicine Division, Regenerative Medicine Unit, Spain
[2] Department of Genetics, Fundación Jimenez Diaz, Spain
[3] Department of Dermatology, La Paz University Hospital, Spain
[4] HLA Laboratory, Regional Transfusion Center, Spain
[5] Centro de Investigaciones Biomedicas en Red en Enfermedades Raras (CIBERER), U704 and U714, Madrid, Spain
[6] Department of Bioengineering, Universidad Carlos III (UC3M), Leganés, Spain
[7] The University of Texas M.D. Anderson Cancer Center, Science Park Research Division, Smithville, Tex, United States
[8] Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell' Immacolata, IDI-IRCCS, Rome, Italy - Source
Dermatology (Basel). 2011, Vol 223, Num 3, pp 219-221, 3 p ; ref : 7 ref
- ISSN
- 1018-8665
- Scientific domain
- Dermatology
- Publisher
- Karger, Basel
- Publication country
- Switzerland
- Document type
- Article
- Language
- English
- Author keyword
- De novo mutations Dystrophic epidermolysis bullosa Genetic counselling Skin disease
- Keyword (fr)
- Dermatologie Epidermolyse bulleuse dystrophique Homme Mutation Pathologie de la peau Récidive Dermatose bulleuse Maladie héréditaire
- Keyword (en)
- Dermatology Dystrophic epidermolysis bullosa Human Mutation Skin disease Relapse Bullous dermatosis Genetic disease
- Keyword (es)
- Dermatología Epidermólisis bulosa distrófica Hombre Mutación Piel patología Recaida Dermatosis bulosa Enfermedad hereditaria
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology / 002B08E Bullous diseases of the skin
- Discipline
- Dermatology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 25353610
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1159/000330331 
https://dx.doi.org/10.1159/000330331
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