A splicing mutation in intron 16 of the cystic fibrosis transmembrane conductance regulator gene, associated with severe disease, is common on Reunion Island.

doi:10.1159/000154347

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Article

A splicing mutation in intron 16 of the cystic fibrosis transmembrane conductance regulator gene, associated with severe disease, is common on Reunion Island.

Human heredity - 1 Jan 2000

Bienvenu T, Cartault F, Lesure F, Renouil M, Beldjord C, Kaplan J C

Abstract excerpt

In addition to the frequent delta F508 and Y122X mutations on cystic fibrosis (CF) chromosomes of patients from Reunion Island, one splicing mutation, 3120+1G-->A is observed relatively frequently (12.5%) in this group, in comparison with the French metropolitan population (<0.001 %). This mutati...

Topics

Child
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Humans
Introns
Mutation
RNA Splicing
Reunion

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