Article
A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation.
European journal of human genetics : EJHG - 1 Apr 2007
Dehainault Catherine, Michaux Dorothée, Pagès-Berhouet Sabine, Caux-Moncoutier Virginie, Doz François, Desjardins Laurence, Couturier Jérôme, Parent Philippe, Stoppa-Lyonnet Dominique, Gauthier-Villars Marion, Houdayer Claude
Abstract excerpt
Familial forms of retinoblastoma, an embryonic neoplasm of retinal origin, are caused by constitutional mutations of the RB1 gene. In this paper, we describe a family with retinoblastoma affecting two brothers with no previous family history of cancer. Complete RB1 mutational screening including point mutation and large rearrangement screening failed to demonstrate any mutation. The whole coding sequence was...
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