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

doi:10.1016/0888-7543(92)90396-A

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 › peer-review

Original language	English
Pages (from-to)	417-418
Number of pages	2
Journal	Genomics
Volume	12
Issue number	2
DOIs	https://doi.org/10.1016/0888-7543(92)90396-A
Publication status	Published - 1992

ASJC Scopus subject areas

Genetics

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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 › peer-review

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

author = "Patrizia Ronchetto and {Telleria Orriols}, {Juan Jose} and Pascale Fanen and Laura Cremonesi and Maurizio Ferrari and Carmelina Magnani and Manuela Seia and Michel Goossens and Giovanni Romeo and Marcella Devoto",

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AU - Ronchetto, Patrizia

AU - Telleria Orriols, Juan Jose

AU - Fanen, Pascale

AU - Cremonesi, Laura

AU - Ferrari, Maurizio

AU - Magnani, Carmelina

AU - Seia, Manuela

AU - Goossens, Michel

AU - Romeo, Giovanni

AU - Devoto, Marcella

PY - 1992

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

ASJC Scopus subject areas

Access to Document

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