A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: A site for rare mutations

B. Mercier; W. Lissens; G. Novelli; L. Kalaydjieva; M. De Arce; N. Kapranov; N. Canki Klain; X. Estivill; Ana Palacio; S. Cashman; A. Savov; M. P. Audrézet; B. Dallapicolla; I. Liebaers; I. Quéré; O. Raguénès; C. Verlingue; C. Férec

A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: A site for rare mutations

B. Mercier, W. Lissens, G. Novelli, L. Kalaydjieva, M. De Arce, N. Kapranov, N. Canki Klain, X. Estivill, Ana Palacio, S. Cashman, A. Savov, M. P. Audrézet, B. Dallapicolla, I. Liebaers, I. Quéré, O. Raguénès, C. Verlingue, C. Férec

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Abstract

Intensive screening has improved our understanding of the profile of mutations in the CFTR gene in which more than 400 mutations have been detected to date. In collaboration with several European laboratories we are involved in such analysis. We have identified 14 new mutations in exon 17b of CFTR, having analysed 780 CF chromosomes, and have compared the frequency of mutations in this exon with that of other regions of the CFTR gene. The results obtained indicate an accumulation of mutations, not only in regions encoding the two nucleotide binding folds, but also in those encoding transmembrane domains of the CFTR gene, in particular exon 17b.

Original language	English
Pages (from-to)	731-734
Number of pages	4
Journal	Journal of Medical Genetics
Volume	31
Issue number	9
Publication status	Published - Sept 1994

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Cite this

Mercier, B., Lissens, W., Novelli, G., Kalaydjieva, L., De Arce, M., Kapranov, N., Canki Klain, N., Estivill, X., Palacio, A., Cashman, S., Savov, A., Audrézet, M. P., Dallapicolla, B., Liebaers, I., Quéré, I., Raguénès, O., Verlingue, C., & Férec, C. (1994). A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: A site for rare mutations. Journal of Medical Genetics, 31(9), 731-734.

Mercier, B, Lissens, W, Novelli, G, Kalaydjieva, L, De Arce, M, Kapranov, N, Canki Klain, N, Estivill, X, Palacio, A, Cashman, S, Savov, A, Audrézet, MP, Dallapicolla, B, Liebaers, I, Quéré, I, Raguénès, O, Verlingue, C & Férec, C 1994, 'A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: A site for rare mutations', Journal of Medical Genetics, vol. 31, no. 9, pp. 731-734.

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title = "A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: A site for rare mutations",

abstract = "Intensive screening has improved our understanding of the profile of mutations in the CFTR gene in which more than 400 mutations have been detected to date. In collaboration with several European laboratories we are involved in such analysis. We have identified 14 new mutations in exon 17b of CFTR, having analysed 780 CF chromosomes, and have compared the frequency of mutations in this exon with that of other regions of the CFTR gene. The results obtained indicate an accumulation of mutations, not only in regions encoding the two nucleotide binding folds, but also in those encoding transmembrane domains of the CFTR gene, in particular exon 17b.",

author = "B. Mercier and W. Lissens and G. Novelli and L. Kalaydjieva and {De Arce}, M. and N. Kapranov and {Canki Klain}, N. and X. Estivill and Ana Palacio and S. Cashman and A. Savov and Audr{\'e}zet, {M. P.} and B. Dallapicolla and I. Liebaers and I. Qu{\'e}r{\'e} and O. Ragu{\'e}n{\`e}s and C. Verlingue and C. F{\'e}rec",

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T2 - A site for rare mutations

AU - Mercier, B.

AU - Lissens, W.

AU - Novelli, G.

AU - Kalaydjieva, L.

AU - De Arce, M.

AU - Kapranov, N.

AU - Canki Klain, N.

AU - Estivill, X.

AU - Palacio, Ana

AU - Cashman, S.

AU - Savov, A.

AU - Audrézet, M. P.

AU - Dallapicolla, B.

AU - Liebaers, I.

AU - Quéré, I.

AU - Raguénès, O.

AU - Verlingue, C.

AU - Férec, C.

PY - 1994/9

Y1 - 1994/9

N2 - Intensive screening has improved our understanding of the profile of mutations in the CFTR gene in which more than 400 mutations have been detected to date. In collaboration with several European laboratories we are involved in such analysis. We have identified 14 new mutations in exon 17b of CFTR, having analysed 780 CF chromosomes, and have compared the frequency of mutations in this exon with that of other regions of the CFTR gene. The results obtained indicate an accumulation of mutations, not only in regions encoding the two nucleotide binding folds, but also in those encoding transmembrane domains of the CFTR gene, in particular exon 17b.

AB - Intensive screening has improved our understanding of the profile of mutations in the CFTR gene in which more than 400 mutations have been detected to date. In collaboration with several European laboratories we are involved in such analysis. We have identified 14 new mutations in exon 17b of CFTR, having analysed 780 CF chromosomes, and have compared the frequency of mutations in this exon with that of other regions of the CFTR gene. The results obtained indicate an accumulation of mutations, not only in regions encoding the two nucleotide binding folds, but also in those encoding transmembrane domains of the CFTR gene, in particular exon 17b.

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A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: A site for rare mutations

Abstract

ASJC Scopus subject areas

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