Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes

A large European study [3]

M. D. Amaral, P. Pacheco, S. Beck, C. M. Farinha, D. Penque, P. Nogueira, C. Barreto, B. Lopes, T. Casals, J. Dapena, S. Gartner, C. Vásquez, J. Pérez-Frías, C. Olveira, R. Cabanas, Xavier P. Estivill, M. Tzetis, E. Kanavakis, S. Doudounakis, T. Dörk & 19 others B. Tümmler, E. Girodon-Boulandet, C. Cazeneuve, M. Goossens, M. Blayau, C. Verlingue, I. Vieira, C. Féréc, M. Claustres, M. Des Georges, C. Clavel, P. Birembaut, D. Hubert, T. Bienvenu, M. Adoun, J. C. Chomel, K. De Boeck, H. Cuppens, J. Lavinha

Research output: Contribution to journalLetter

28 Citations (Scopus)
Original languageEnglish
Pages (from-to)777-782
Number of pages6
JournalJournal of Medical Genetics
Volume38
Issue number11
Publication statusPublished - 2001
Externally publishedYes

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DNA Mutational Analysis
Severity of Illness Index
Cystic Fibrosis Transmembrane Conductance Regulator
Sequence Deletion
Homozygote
Alternative Splicing
Point Mutation
Cystic Fibrosis
Haplotypes
Alleles
Genotype
Phenotype
Mutation
DNA

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Amaral, M. D., Pacheco, P., Beck, S., Farinha, C. M., Penque, D., Nogueira, P., ... Lavinha, J. (2001). Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: A large European study [3]. Journal of Medical Genetics, 38(11), 777-782.

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes : A large European study [3]. / Amaral, M. D.; Pacheco, P.; Beck, S.; Farinha, C. M.; Penque, D.; Nogueira, P.; Barreto, C.; Lopes, B.; Casals, T.; Dapena, J.; Gartner, S.; Vásquez, C.; Pérez-Frías, J.; Olveira, C.; Cabanas, R.; Estivill, Xavier P.; Tzetis, M.; Kanavakis, E.; Doudounakis, S.; Dörk, T.; Tümmler, B.; Girodon-Boulandet, E.; Cazeneuve, C.; Goossens, M.; Blayau, M.; Verlingue, C.; Vieira, I.; Féréc, C.; Claustres, M.; Des Georges, M.; Clavel, C.; Birembaut, P.; Hubert, D.; Bienvenu, T.; Adoun, M.; Chomel, J. C.; De Boeck, K.; Cuppens, H.; Lavinha, J.

In: Journal of Medical Genetics, Vol. 38, No. 11, 2001, p. 777-782.

Research output: Contribution to journalLetter

Amaral, MD, Pacheco, P, Beck, S, Farinha, CM, Penque, D, Nogueira, P, Barreto, C, Lopes, B, Casals, T, Dapena, J, Gartner, S, Vásquez, C, Pérez-Frías, J, Olveira, C, Cabanas, R, Estivill, XP, Tzetis, M, Kanavakis, E, Doudounakis, S, Dörk, T, Tümmler, B, Girodon-Boulandet, E, Cazeneuve, C, Goossens, M, Blayau, M, Verlingue, C, Vieira, I, Féréc, C, Claustres, M, Des Georges, M, Clavel, C, Birembaut, P, Hubert, D, Bienvenu, T, Adoun, M, Chomel, JC, De Boeck, K, Cuppens, H & Lavinha, J 2001, 'Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: A large European study [3]', Journal of Medical Genetics, vol. 38, no. 11, pp. 777-782.
Amaral, M. D. ; Pacheco, P. ; Beck, S. ; Farinha, C. M. ; Penque, D. ; Nogueira, P. ; Barreto, C. ; Lopes, B. ; Casals, T. ; Dapena, J. ; Gartner, S. ; Vásquez, C. ; Pérez-Frías, J. ; Olveira, C. ; Cabanas, R. ; Estivill, Xavier P. ; Tzetis, M. ; Kanavakis, E. ; Doudounakis, S. ; Dörk, T. ; Tümmler, B. ; Girodon-Boulandet, E. ; Cazeneuve, C. ; Goossens, M. ; Blayau, M. ; Verlingue, C. ; Vieira, I. ; Féréc, C. ; Claustres, M. ; Des Georges, M. ; Clavel, C. ; Birembaut, P. ; Hubert, D. ; Bienvenu, T. ; Adoun, M. ; Chomel, J. C. ; De Boeck, K. ; Cuppens, H. ; Lavinha, J. / Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes : A large European study [3]. In: Journal of Medical Genetics. 2001 ; Vol. 38, No. 11. pp. 777-782.
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T1 - Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes

T2 - A large European study [3]

AU - Amaral, M. D.

AU - Pacheco, P.

AU - Beck, S.

AU - Farinha, C. M.

AU - Penque, D.

AU - Nogueira, P.

AU - Barreto, C.

AU - Lopes, B.

AU - Casals, T.

AU - Dapena, J.

AU - Gartner, S.

AU - Vásquez, C.

AU - Pérez-Frías, J.

AU - Olveira, C.

AU - Cabanas, R.

AU - Estivill, Xavier P.

AU - Tzetis, M.

AU - Kanavakis, E.

AU - Doudounakis, S.

AU - Dörk, T.

AU - Tümmler, B.

AU - Girodon-Boulandet, E.

AU - Cazeneuve, C.

AU - Goossens, M.

AU - Blayau, M.

AU - Verlingue, C.

AU - Vieira, I.

AU - Féréc, C.

AU - Claustres, M.

AU - Des Georges, M.

AU - Clavel, C.

AU - Birembaut, P.

AU - Hubert, D.

AU - Bienvenu, T.

AU - Adoun, M.

AU - Chomel, J. C.

AU - De Boeck, K.

AU - Cuppens, H.

AU - Lavinha, J.

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