X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
- Author
- KERE, J1 ; SRIVASTAVA, A. K; CHEN, E. Y; EZER, S1 ; SARRIALHO-KERE, U1 ; DE LA CHAPELLE, A1 ; SCHLESSINGER, D; MONTONEN, O1 ; ZONANA, J; THOMAS, N; FERGUSON, B; MUNOZ, F; MORGAN, D; CLARKE, A; BAYBAYAN, P
[1] Department of Medical Genetics, Haartman Institute, PO Box 21, 00014 University of Helsinki, Finland - Source
Nature genetics. 1996, Vol 13, Num 4, pp 409-416 ; ref : 46 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Caractère lié au sexe Carte génétique Chromosome X DNA complémentaire Dysplasie ectodermique anhidrotique Délétion Expression génique Gène Génétique Homme Homologie Mutation Poil Protéine membranaire Séquence nucléotide Translocation chromosomique Aberration chromosomique Chromosome anormal Dent pathologie Glande sudoripare pathologie Maladie héréditaire Malformation Peau pathologie Stomatologie
- Keyword (en)
- Sex linked character Genetic mapping X-Chromosome Complementary DNA Anhidrotic ectodermal dysplasia Deletion Gene expression Gene Genetics Human Homology Mutation Hair Membrane protein Nucleotide sequence Chromosome translocation Chromosomal aberration Abnormal chromosome Dental disease Sweat gland disease Genetic disease Malformation Skin disease Stomatology
- Keyword (es)
- Carácter ligado al sexo Mapa genético Cromosoma X DNA complementario Displasia ectodérmica anhidrótica Deleción Expresión genética Gen Genética Hombre Homología Mutación Pelo Proteína membranar Secuencia nucleótido Translocación cromosómica Aberración cromosómica Cromosoma anormal Diente patología Glándula sudorípara patología Enfermedad hereditaria Malformación Piel patología Estomatología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology / 002B08H Hair and nails disorders
- Discipline
- Dermatology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 3178439
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
10.1038/ng0895-409 
https://dx.doi.org/10.1038/ng0895-409
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