Mutation analysis in cystic fibrosis

The article by Lemna et al. (Feb. 1 issue)1 furthers the evaluation of the ΔF508 mutation, which is associated with some cases of cystic fibrosis. Although its real effect may be to help in documenting the substantial clinical variation that can occur among persons who possess the same small genetic...

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Detalles Bibliográficos
Autores: Gasparini, Paolo, Pignatti, P. F., Novelli, Giuseppe, Dallapiccola, B., Nunes Martínez, Virginia, Casals, T., Estivill, Xavier, 1955-, Fernández Muñoz, Esteve, Balassopoulou, A., Loukopoulos, D., Lavinha, J., Simova, L., Komel, R.
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:1990
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/44105
Acceso en línea:https://hdl.handle.net/2445/44105
Access Level:acceso abierto
Palabra clave:Fibrosi quística
Cystic fibrosis
Descripción
Sumario:The article by Lemna et al. (Feb. 1 issue)1 furthers the evaluation of the ΔF508 mutation, which is associated with some cases of cystic fibrosis. Although its real effect may be to help in documenting the substantial clinical variation that can occur among persons who possess the same small genetic deletion, the finding has encouraged calls for general screening...