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A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma

Author
KLJUIC, Ana1 ; GILEAD, Leon2 ; MARTINEZ-MIR, Amalia3 ; FRANK, Jorge3 ; CHRISTIANO, Angela M1 3 ; ZLOTOGORSKI, Abraham2
[1] Department of Genetics and Development, Columbia University, New York, NY, United States
[2] Department of Dermatology, Hadassah University Medical Center, Jerusalem, Israel
[3] Department of Dermatology, Columbia University, New York, NY, United States
Source

Experimental dermatology. 2003, Vol 12, Num 4, pp 523-527, 5 p ; ref : 18 ref

ISSN
0906-6705
Scientific domain
Dermatology
Publisher
Blackwell, Oxford
Publication country
United Kingdom
Document type
Article
Language
English
Author keyword
cadherin desmoglein desmosome mutation striate keratoderma
Keyword (fr)
Gène Génétique Homme Kératodermie Mutation non sens Desmogléine 1 Kératodermie palmoplantaire striée Dyskératose Hyperkératose Maladie héréditaire Peau pathologie
Keyword (en)
Gene Genetics Human Keratoderma Nonsense mutation Desmoglein 1 Striate palmoplantar keratoderma Dyskeratosis Hyperkeratosis Genetic disease Skin disease
Keyword (es)
Gen Genética Hombre Queratodermia Mutación sin sentido Desmogleina 1 Disqueratosis Hiperqueratosis Enfermedad hereditaria Piel patología
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology / 002B08I Dyskeratosis

Discipline
Dermatology
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
14948928

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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