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. Beaudet; Francis S. Collins; Bat Sheva Kerem; John R. Riordan; Lap Chee Tsui

doi:10.1056/NEJM199007053230114

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 journal › Letter › peer-review

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Abstract

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 language	English
Pages (from-to)	62-63
Number of pages	2
Journal	New England Journal of Medicine
Volume	323
Issue number	1
DOIs	https://doi.org/10.1056/NEJM199007053230114
State	Published - 5 Jul 1990
Externally published	Yes

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Billings, P. R., Gasparini, P., Pignatti, P. F., Novelli, G., Dallapiccola, B., Nunes, V., Casals, T., Estivill, X., Fernandez, E., Balassopoulou, A., Loukopoulos, D., Lavinha, J., Simova, L., Komel, R., Lemna, W. K., Feldman, G. L., Fernbach, S. D., Zevkovich, E. P., O'brien, W. E., ... Tsui, L. C. (1990). Mutation Analysis in Cystic Fibrosis. New England Journal of Medicine, 323(1), 62-63. https://doi.org/10.1056/NEJM199007053230114

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title = "Mutation Analysis in Cystic Fibrosis",

abstract = "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…",

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

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doi = "10.1056/NEJM199007053230114",

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Billings, PR, Gasparini, P, Pignatti, PF, Novelli, G, Dallapiccola, B, Nunes, V, Casals, T, Estivill, X, Fernandez, E, Balassopoulou, A, Loukopoulos, D, Lavinha, J, Simova, L, Komel, R, Lemna, WK, Feldman, GL, Fernbach, SD, Zevkovich, EP, O'brien, WE, Beaudet, AL, Collins, FS, Kerem, BS, Riordan, JR & Tsui, LC 1990, 'Mutation Analysis in Cystic Fibrosis', New England Journal of Medicine, vol. 323, no. 1, pp. 62-63. https://doi.org/10.1056/NEJM199007053230114

TY - JOUR

T1 - Mutation Analysis in Cystic Fibrosis

AU - Billings, Paul R.

AU - Gasparini, P.

AU - Pignatti, P. F.

AU - Novelli, G.

AU - Dallapiccola, B.

AU - Nunes, V.

AU - Casals, T.

AU - Estivill, X.

AU - Fernandez, E.

AU - Balassopoulou, A.

AU - Loukopoulos, D.

AU - Lavinha, J.

AU - Simova, L.

AU - Komel, R.

AU - Lemna, Wanda K.

AU - Feldman, Gerald L.

AU - Fernbach, Susan D.

AU - Zevkovich, Elaine P.

AU - O'brien, William E.

AU - Beaudet, Arthur L.

AU - Collins, Francis S.

AU - Kerem, Bat Sheva

AU - Riordan, John R.

AU - Tsui, Lap Chee

PY - 1990/7/5

Y1 - 1990/7/5

N2 - 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…

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Mutation Analysis in Cystic Fibrosis

Abstract

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