Cystic fibrosis patients bearing both the common missense mutation Gly→Asp at codon 551 and the ΔF508 mutation are clinically indistinguishable from ΔF508 homozygotes, except for decreased risk and meconium illeus
- Author
- HAMOSH, A1 ; KING, T. M; MACEK, M. JR; ZEMBOVA, D; KRASNICANOVA, H; VAVROVA, V; MACEK, M. SR; GOLDER, N; SCHWARZ, M. J; SUPER, M; WATSON, E. K; WILLIAMS, C; ROSENSTEIN, B. J; BUSH, A; O'MAHONEY, S. M; HUMPHRIES, P; DEARCE, M. A; REIS, A; BÜRGER, J; STUHRMANN, M; SCHMIDTKE, J; WULBRAND, U; DÖRK, T; COREY, M; TÜMMLER, B; CUTTING, G. R; LEVISION, H; DURIE, P; TSUI, L.-C; MCINTOSH, I; KESTON, M; BROCK, D. J. H
[1] Johns Hopkins univ., cent. medical genetics, dep. pediatrics, Baltimore MD, United States - Source
American journal of human genetics. 1992, Vol 51, Num 2, pp 245-250 ; ref : 1/2 p
- Publisher
- University of Chicago Press, Chicago, IL
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Conseil génétique Génotype Homme Intestin pathologie Mucoviscidose Mutation faux sens Pancréas pathologie Phénotype Appareil digestif pathologie Appareil respiratoire pathologie Maladie héréditaire
- Keyword (en)
- Genetic counseling Genotype Human Intestinal disease Mucoviscidosis Missense mutation Pancreatic disease Phenotype Digestive diseases Respiratory disease Genetic disease
- Keyword (es)
- Consejo genético Genotipo Hombre Intestino patología Mucoviscidosis Mutación falso sentido Páncreas patología Fenotipo Aparato digestivo patología Aparato respiratorio patología Enfermedad hereditaria
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B13 Gastroenterology. Liver. Pancreas. Abdomen / 002B13C Liver. Biliary tract. Portal circulation. Exocrine pancreas / 002B13C03 Other diseases. Semiology
- Discipline
- Gastroenterology. Liver. Pancreas. Abdomen
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 5463834
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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arXiv access
