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This confidence increases as more different mutations are tested.
The 20 or more different mutations reported in keratin 16 include p.Arg127Cys and p.Arg127Pro.
Intra-tumour heterogeneity of drug resistance mechanisms occurs in gastrointestinal stromal tumours (GIST) treated with imatinib or sunitinib; 9 of 11 patients with oncogenic KIT mutations developed secondary drug-resistant mutations, 6 of whom had two or more different mutations in separate metastases, and 3 of whom had 2 secondary KIT mutations in the same metastasis (Liegl et al, 2008).
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Further, the more often different mutations are found within a gene, the more likely the gene will be a target of the screening.
Given the high heterogeneity of CHD-related gene mutations (e.g. more than 50 different mutations were found in TBX5), most mutational analyses include the whole coding region of a disease gene in an attempt to find novel variants.
More than 50 different mutations in PRNP have been identified.
More than 500 different mutations in the PAH gene have been described;5 most are point mutations, but deletions, duplications, and insertions are also observed.
More than 100 different mutations of the transthyretin gene were identified worldwide, but still the first described Val30Met is the most common one.
And there are more than 230 different mutations located in 20 different exons reported in CADASIL patients [4, 13].
Since the first report of a link between the SOD1 mutations and FALS [3], more than 130 different mutations have been reported [1], [2].
More than 1500 different mutations have been identified [ 2].
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CEO of Professional Science Editing for Scientists @ prosciediting.com