A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.

mRNA analysis of the cystic fibrosis transmembrane regulator (CFTR) gene in tissues of cystic fibrosis (CF) patients has allowed us to detect a cryptic exon. The new exon involves 49 base pairs between exons 11 and 12 and is due to a point mutation (1811+1.6kbA-->G) that creates a new donor splic...

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Bibliographic Details
Main Authors:	Chillón, M, Dörk, T, Casals, T, Giménez, J, Fonknechten, N, Will, K, Ramos, D, Nunes, V, Estivill, X
Format:	Artigo
Language:	Inglês
Published:	1995
Subjects:	Research Article
Online Access:	https://ncbi.nlm.nih.gov/pmc/articles/PMC1801150/ https://ncbi.nlm.nih.gov/pubmed/7534040
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A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.

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