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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Detalhes 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.
Formato: artículo
Estado:Versión publicada
Fecha de publicación:1990
País:España
Recursos: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
Acesso em linha:https://hdl.handle.net/2445/44105
Access Level:acceso abierto
Palavra-chave:Fibrosi quística
Cystic fibrosis
Descrição
Resumo: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...