Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa
- Author
- TAMAI, K1 ; ISHIDA-YAMAMOTO, A2 ; MATSUO, S2 ; IIZUKA, H2 ; HASHIMOTO, I1 ; CHRISTIANO, A. M3 ; UITTO, J3 ; MCGRATH, J. A3 4
[1] Department of Dermatology, Hirosaki University School of Medicine, Hirosaki, Japan
[2] Department of Dermatology, Asahikawa Medical College, Asahikawa, Japan
[3] Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania, United States
[4] St. John's Institute of Dermatology, United Medical and Dental School, St. Thomas's Hospital, London, United Kingdom - Source
Laboratory investigation. 1997, Vol 76, Num 2, pp 209-217 ; ref : 1 p.1/4
- CODEN
- LAINAW
- ISSN
- 0023-6837
- Scientific domain
- Biochemistry, molecular biology, biophysics; Medical laboratory techniques; General medicine general surgery
- Publisher
- Nature Publishing, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Epidermolyse bulleuse dystrophique Etude cas Homme Hétérozygotie Japonais Mutation non sens Collagène type VII Dermatose bulleuse Glycoprotéine Maladie héréditaire Peau pathologie
- Keyword (en)
- Dystrophic epidermolysis bullosa Case study Human Heterozygozity Japanese Nonsense mutation Bullous dermatosis Glycoproteins Genetic disease Skin disease
- Keyword (es)
- Epidermólisis bulosa distrófica Estudio caso Hombre Heterozigosis Japonés Mutación sin sentido Dermatosis bulosa Glicoproteina Enfermedad hereditaria Piel patología
- 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
- 2574157
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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