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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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