A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A → G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene

Patrizia Ronchetto, Juan Jose Telleria Orriols, Pascale Fanen, Laura Cremonesi, Maurizio Ferrari, Carmelina Magnani, Manuela Seia, Michel Goossens, Giovanni Romeo, Marcella Devoto

Research output: Contribution to journal › Article

Original languageEnglish
Pages (from-to)417-418
Number of pages2
JournalGenomics
Volume12
Issue number2
DOIs
Publication statusPublished - 1992

ASJC Scopus subject areas

  • Genetics

Cite this

A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A → G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene. / Ronchetto, Patrizia; Telleria Orriols, Juan Jose; Fanen, Pascale; Cremonesi, Laura; Ferrari, Maurizio; Magnani, Carmelina; Seia, Manuela; Goossens, Michel; Romeo, Giovanni; Devoto, Marcella.

In: Genomics, Vol. 12, No. 2, 1992, p. 417-418.

Research output: Contribution to journal › Article

Ronchetto, P, Telleria Orriols, JJ, Fanen, P, Cremonesi, L, Ferrari, M, Magnani, C, Seia, M, Goossens, M, Romeo, G & Devoto, M 1992, 'A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A → G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene', Genomics, vol. 12, no. 2, pp. 417-418. https://doi.org/10.1016/0888-7543(92)90396-A
Ronchetto P, Telleria Orriols JJ, Fanen P, Cremonesi L, Ferrari M, Magnani C et al. A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A → G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene. Genomics. 1992;12(2):417-418. https://doi.org/10.1016/0888-7543(92)90396-A
Ronchetto, Patrizia ; Telleria Orriols, Juan Jose ; Fanen, Pascale ; Cremonesi, Laura ; Ferrari, Maurizio ; Magnani, Carmelina ; Seia, Manuela ; Goossens, Michel ; Romeo, Giovanni ; Devoto, Marcella. / A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A → G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene. In: Genomics. 1992 ; Vol. 12, No. 2. pp. 417-418.
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AU - Seia, Manuela

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AU - Romeo, Giovanni

AU - Devoto, Marcella

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