A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de meleda: Evidence of a founder effect
- Author
- GUOFANG HU1 ; YILDIRIM, Mehmet2 ; BAYSAL, Vahide2 ; YEREBAKAN, Ozlem3 ; YILMAZ, Ertan3 ; INALOZ, H. Serhat4 ; MARTINEZ-MIR, Amalia1 ; CHRISTIANO, Angela M1 5 ; CELEBI, Julide Tok1
[1] Department of Dermatology, Columbia University, New York, United States
[2] Department of Dermatology, Suleyman Demirel University, Isparta, Turkey
[3] Department of Dermatology, Akdeniz University, Antalya, Turkey
[4] Department of Dermatology, Gaziantep University, Gaziantep, Turkey
[5] Department of Genetics and Development, Columbia University, New York, United States - Source
Journal of investigative dermatology. 2003, Vol 120, Num 6, pp 967-969, 3 p ; ref : 12 ref
- CODEN
- JIDEAE
- ISSN
- 0022-202X
- Scientific domain
- Dermatology
- Publisher
- Nature Publishing, Danvers, MA
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- ARS (component B)/ founder/mal de Meleda/mutation/SLURP-1
- Keyword (fr)
- Effet fondateur Etude familiale Gène Génétique Homme Kératodermie palmoplantaire Meleda Mutation Turquie Dyskératose Hyperkératose Maladie héréditaire Peau pathologie Asie
- Keyword (en)
- Founder effect Family study Gene Genetics Human Keratoderma palmoplantaris Meleda Mutation Turkey Dyskeratosis Hyperkeratosis Genetic disease Skin disease Asia
- Keyword (es)
- Efecto fundador Estudio familiar Gen Genética Hombre Queratodermia palmoplantar Meleda Mutación Turquía Disqueratosis Hiperqueratosis Enfermedad hereditaria Piel patología Asia
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology / 002B08I Dyskeratosis
- Discipline
- Dermatology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 14891782
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
10.1046/j.1523-1747.2003.12248.x 
https://dx.doi.org/10.1046/j.1523-1747.2003.12248.x
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