Article
Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome.
Human genetics - 1 Aug 1993
Santos A, Osorio-Almeida L, Baird P N, Silva J M, Boavida M G, Cowell J
Abstract excerpt
The WT1 gene was analysed using DNA from a Wilms' tumour derived from a patient with the WAGR syndrome using single strand conformation polymorphism analysis and polymerase chain reaction sequencing. A 14-bp insertion was found in the intron part of the splice donor site of exon 7 and was a tandem duplication of an upstream exon sequence. This mutation would be expected to disrupt the correct processing of the...
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