نتایج جستجو برای: somatic mutation
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Genome-wide somatic mutation profiles of tumours can now be assessed efficiently and promise to move precision medicine forward. Statistical analysis of mutation profiles is however challenging due to the low frequency of most mutations, the varying mutation rates across tumours, and the presence of a majority of passenger events that hide the contribution of driver events. Here we propose a me...
We report the case of a male patient with Larsen syndrome found to be mosaic for a novel point mutation in FLNB in whom it was possible to provide evidence-based personalized counseling on transmission risk to future offspring. Using dideoxy sequencing, a low-level FLNB c.698A>G, encoding p.(Tyr233Cys) mutation was detected in buccal mucosa and fibroblast DNA. Mutation quantification was perfor...
1 1.1 Cis-acting elements in somatic hypermutation 3 1.2 Transacting elements in somatic hypermutation 4 1.2.1 Activation-induced cytidine deaminase (AID) 4 1.2.2 Mismatch repair in somatic hypermutation 9 1.3 Mutation rates measurements 13 1.4. Specific Aims 15 1.4.1. Specific aim 1: Develop a retroviral based point mutation indicator system 15 1.4.2. Specific aim 2: Characterize the IgH major...
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