Mutations in the human Jagged1 gene are responsible for Alagille syndrome
- Author
- ODA, T1 ; ELKAHLOUN, A. G2 3 ; CHANDRASEKHARAPPA, S. C1 ; PIKE, B. L1 ; OKAJIMA, K4 ; KRANTZ, I. D5 ; GENIN, A5 ; PICCOLI, D. A5 ; MELTZER, P. S2 ; SPINNER, N. B5 ; COLLINS, F. S1
[1] Laboratory of Gene Transfer, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4442, United States
[2] Laboratory of Cancer Genetics, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4442, United States
[3] Research Genetics Inc., Huntsville, Alabama 35801, United States
[4] Department of Pediatrics, Nagoya City University Medical School, Nagoya 467, Japan
[5] Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104-4399, United States - Source
Nature genetics. 1997, Vol 16, Num 3, pp 235-242 ; ref : 37 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Caractère dominant Carte génétique Carte physique Chromosome F20 Contig Dysplasie artériohépatique Génétique Homme Interaction cellulaire Ligand Mutation Organisation gène Structure domaine Gène JAG1 Protéine Notch Appareil circulatoire pathologie Appareil digestif pathologie Circulation portale pathologie Maladie congénitale Maladie héréditaire Malformation Vaisseau sanguin pathologie
- Keyword (en)
- Dominant character Genetic mapping Physical map Chromosome F20 Contig Arteriohepatic dysplasia Genetics Human Cell cell interaction Ligand Mutation Gene organization Domain structure Cardiovascular disease Digestive diseases Portal circulation disease Congenital disease Genetic disease Malformation Vascular disease
- Keyword (es)
- Carácter dominante Mapa genético Mapa físico Cromosoma F20 Contig Displasia arteriohepática Genética Hombre Interacción celular Ligando Mutación Organización gene Estructura dominio Aparato circulatorio patología Aparato digestivo patología Circulación portal patología Enfermedad congénita Enfermedad hereditaria Malformación Vaso sanguíneo patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Discipline
- Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 2722414
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/ng0797-235 
https://dx.doi.org/10.1038/ng0797-235
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