Mutation Analysis in Cystic Fibrosis

Paul R. Billings, P. Gasparini, P. F. Pignatti, G. Novelli, B. Dallapiccola, V. Nunes, T. Casals, X. Estivill, E. Fernandez, A. Balassopoulou, D. Loukopoulos, J. Lavinha, L. Simova, R. Komel, Wanda K. Lemna, Gerald L. Feldman, Susan D. Fernbach, Elaine P. Zevkovich, William E. O'brien, Arthur L. BeaudetFrancis S. Collins, Bat Sheva Kerem, John R. Riordan, Lap Chee Tsui

Research output: Contribution to journalLetterpeer-review

7 Scopus citations


To the Editor: 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 for cystic fibrosis. This is already offered to the public by unregulated for-profit laboratories supported by biotechnology companies, generally without professional genetic counseling. Their services have become available despite the cautions expressed by the American Society of…

Original languageAmerican English
Pages (from-to)62-63
Number of pages2
JournalNew England Journal of Medicine
Issue number1
StatePublished - 5 Jul 1990
Externally publishedYes


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