Genomic variations with no apparent effect ("neutral polymorphisms") may have a significant effect on splicing. The effect of this type of mutation is difficult to spot, unless a functional assay is undertaken. In our study, DNA sequencing of a patient with clinically defined neurofibromatosis type
A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation
✍ Scribed by Dehainault, Catherine; Michaux, Dorothée; Pagès-Berhouet, Sabine; Caux-Moncoutier, Virginie; Doz, François; Desjardins, Laurence; Couturier, Jérôme; Parent, Philippe; Stoppa-Lyonnet, Dominique; Gauthier-Villars, Marion
- Book ID
- 110026888
- Publisher
- Nature Publishing Group
- Year
- 2007
- Tongue
- English
- Weight
- 193 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1018-4813
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