A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness
- Author
- DE ZWART-STORM, E. A1 2 ; HAMM, H3 ; STOEVESANDT, J3 ; STEIJIEN, P. M1 ; MARTIN, P. E2 ; VAN GEEL, M1 ; VAN STEENSEL, M. A. M1
[1] Department of Dermatology, Maastricht University Centre for Molecular Dermatology (MUCMD) and GROW -School for Oncology and Developmental Biology, University Hospital Maastricht, Netherlands
[2] Department of Biological and Biomedical Sciences, Glasgow Caledonian University, Glasgow, United Kingdom
[3] Department of Dermatology, University of Würzburg, Germany - Source
Journal of medical genetics. 2008, Vol 45, Num 3, pp 161-166, 6 p ; ref : 36 ref
- Publisher
- BMJ, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Génétique Homme Jonction communicante Kératodermie palmoplantaire Mutation faux sens Protéine Surdité Transport Dyskératose Hyperkératose Maladie héréditaire Pathologie ORL Pathologie de la peau Trouble de l'audition
- Keyword (en)
- Genetics Human Gap junction Keratoderma palmoplantaris Missense mutation Protein Hearing loss Transport Dyskeratosis Hyperkeratosis Genetic disease ENT disease Skin disease Auditory disorder
- Keyword (es)
- Genética Hombre Unión comunicante Queratodermia palmoplantar Mutación falso sentido Proteína Sordera Transporte Disqueratosis Hiperqueratosis Enfermedad hereditaria ORL patología Piel patología Trastorno auditivo
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology / 002B08I Dyskeratosis
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Dermatology Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20126668
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
10.1136/jmg.2007.052332 
https://dx.doi.org/10.1136/jmg.2007.052332
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