Predominance of null mutations in ataxia-telangiectasia
- Author
- GILAD, S1 ; KHOSRAVI, R1 ; HARNIK, R; FRYDMAN, M; SANAL, O; PORTNOI, S; GOLDWICZ, Z; JASPERS, N. G. J; GATTI, R. A; LENOIR, G2 ; LAVIN, M. F; TATSUMI, K; SHKEDY, D1 ; WEGNER, R. D; SHILOH, Y; BAR-SHIRA, A; UZIEL, T1 ; ZIV, Y1 ; SAVITSKY, K1 ; ROTMAN, G1 ; SMITH, S1 ; CHESSA, L; JORGENSEN, T. J
[1] Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel
[2] Laboratoire de Génétique JE 382, Université Claude Bernard, 69373 Lyon, France - Source
Human molecular genetics (Print). 1996, Vol 5, Num 4, pp 433-439 ; ref : 41 ref
- Publisher
- Oxford University Press, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Ataxie télangiectasie DNA Gène Génétique Homme Irradiation Mutation Pathogénie Phénotype Protéine Réparation Appareil circulatoire pathologie Immunopathologie Maladie héréditaire Oeil pathologie Peau pathologie Système nerveux pathologie Vaisseau sanguin pathologie
- Keyword (en)
- Ataxia telangiectasia DNA Gene Genetics Human Irradiation Mutation Pathogenesis Phenotype Proteins Repair Cardiovascular disease Immunopathology Genetic disease Eye disease Skin disease Nervous system diseases Vascular disease
- Keyword (es)
- Ataxia telangiectasia DNA Gen Genética Hombre Irradiación Mutación Patogenia Fenotipo Proteína Reparación Aparato circulatorio patología Inmunopatología Enfermedad hereditaria Ojo patología Piel patología Sistema nervioso patología Vaso sanguíneo patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23C Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...)
- Discipline
- Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 3030189
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
10.1093/hmg/5.4.433 
https://dx.doi.org/10.1093/hmg/5.4.433
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