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Unfortunately, for most diseases the recurrence risk of de novo mutations originating from germline mosaicism has not been studied.
It has previously been described as one of four founder mutations originating from the Eastern population of Norway [ 42].
All mutations originating from stage k on the same copy s will have the same allele frequency.
In the strain QM9414, 23 novel mutations were detected in addition to the 16 mutations originating from QM9123 (Tables 1 and 3).
We were not able to culture tumour cells presenting IDH1 mutations originating from currently proceeded 10 tumours; the same results were observed in 7 samples of archival material.
It is worthwhile noting that this bias has no effect on the shape of the distribution and on the coefficient of variation of selection coefficients of mutations originating from a given genotype, an important parameter relating to the effective number of phenotypic traits under selection and to the 'cost of complexity' for adaptation [ 9, 34].
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This fact clearly showed how these mutations originate from one parental cell clone (Figure 2).
Most BRCA1 mutations are founder mutations originated from the ancestor of the affected family passing through multiple generations.
The BRCA1 variants occurred in families originating from different areas of the island without a defined geographical clustering, though about half of the cases carrying the BRCA1 mutations originated from the South Sardinia.
This kind of analysis in the V and J segments revealed that 46% of all mutations originated from C residues, as shown in Figure 9; this finding is consistent with the AID mechanism [ 31].
A P322T mutation originating from the EST was mutated back to proline using the mutagenic primers 5′-CAGTAAACGGCTTTGACCCCGCTCCTCCTCCTCC-3′ and 5′-GGAGGAGGAGGAGCGGGGTCAAAGCCGTTTACTG-3′ so that the sequence exactly matches the NCBI accession number AY004871.1; GI:12043568, and the resulting protein matches the Swiss-Prot entry Q9GZM8.
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