Different CTNNB1 mutations as molecular genetic proof for the independent origin of four Wilms tumours in a patient with a novel germ line WT1 mutation

We describe a patient with a novel WT1 pS50X germ line mutation, who developed bilateral Wilms tumours, both with stromal‐type histology. Both tumours showed loss of the wild type WT1 allele (loss of heterozygosity (LOH)) and a tumour specific mutation in catenin beta1 (CTNNB1), S45P in the left and...

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Hlavní autoři: Uschkereit, Constanze, Perez, Noelia, de Torres, Carmen, Küff, Maike, Mora, Jaume, Royer‐Pokora, Brigitte
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2007
Témata:
Letter to JMG
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2740887/
https://ncbi.nlm.nih.gov/pubmed/17551084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.047530
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