Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates
- Author
- ECKL, Katja Martina1 ; STEVENS, Howard P2 3 ; REIS, André7 ; HENNIES, Hans Christian1 ; LESTRINGANT, Gilles G4 ; WESTENBERGER-TREUMANN, Margaretha5 ; TRAUPE, Heiko6 ; HINZ, Britta1 ; FROSSARD, Philippe M4 ; STADLER, Rudolf5 ; LEIGH, Irene M2 ; NÜRNBERG, Peter1
Institute of Medical Genetics, Charité, Humboldt University, Berlin, Germany
[1] Gene Mapping Centre and Department of Molecular Genetics, Max Delbrück Centre for Molecular Medicine, Robert Rössle Strasse 10, 13125 Berlin, Germany
[2] Centre for Cutaneous Research, St Bartholomew's and the Royal London School of Medicine, London, United Kingdom
[3] Department of Dermatology, Barnet General Hospital, Barnet, United Kingdom
[4] Tawam Hospital and Faculty of Medicine and Health Sciences, Al Ain, United Arab Emirates Department of Dermatology, Klinikum Minden, Minden, Germany
[5] Department of Dermatology, Westfalian Wilhelms University, Münster, Germany
[6] Institute of Human Genetics, Friedrich Alexander University, Erlangen, Germany
[7] Faculty of Biology, Chemistry, and Pharmacy, Free University, Berlin, Germany - Source
Human genetics. 2003, Vol 112, Num 1, pp 50-56, 7 p ; ref : 1 p.1/4
- CODEN
- HUGEDQ
- ISSN
- 0340-6717
- Scientific domain
- Biotechnology; Genetics
- Publisher
- Springer, Berlin
/
Springer, Heidelberg
/
Springer, New York, NY
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Keyword (fr)
- Association statistique Etude familiale Gène candidat Homme Kératodermie palmoplantaire Meleda Mutation Protéine SLURP-1 Dyskératose Hyperkératose Maladie héréditaire Peau pathologie
- Keyword (en)
- Statistical association Family study Candidate gene Human Keratoderma palmoplantaris Meleda Mutation Dyskeratosis Hyperkeratosis Genetic disease Skin disease
- Keyword (es)
- Asociación estadística Estudio familiar Gen candidato Hombre Queratodermia palmoplantar Meleda Mutación Disqueratosis Hiperqueratosis Enfermedad hereditaria Piel patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution / 002A07C Classical genetics, quantitative genetics, hybrids / 002A07C03 Human
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology / 002B08I Dyskeratosis
- Discipline
- Dermatology Eukaryotes genetics. Biological and molecular evolution
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 14599222
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
10.1007/s00439-002-0838-8 
https://dx.doi.org/10.1007/s00439-002-0838-8
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