Article
Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma.
Familial cancer - 1 Jan 2009
Mitter Diana, Rushlow Diane, Nowak Inga, Ansperger-Rescher Birgit, Gallie Brenda L, Lohmann Dietmar R
Abstract excerpt
Retinoblastoma (Rb) is initiated by germline mutations in the RB1 gene. Up to date, no mutation was identified in exons 26 and 27. We have identified a 2 bp frameshift insertion in exon 27 of the RB1 gene (RBg.177008_177009dup) in a boy with unilateral Rb and his healthy father that has occurred de novo on the allele transmitted by the father's father. RT-PCR showed that the mutant +2 bp transcript is present in...
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