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They repeated the test the following October, and this time the results showed that Teixidor's tumor DNA had several mutations, including one in a gene called AKT1.
Five of these mutations, including one nonsense, one deletion, two splice-site, and one missense mutation, have not been previously reported.
In addition, we identified five novel COL3A1 mutations, including one deletion (c.2187delA) and one nonsense mutation (c.2992C>T) that could not be determined by the conventional total RNA method.
Eighteen different CF-causing mutations, including one previously undescribed mutation p. (Gly1265Arg), were identified.
Among the heterozygous variants identified, three are silent mutations, including one that is novel (p.L341L).
Our screening successfully identified ten mutations including one nonsense mutation in fugu Mstn gene.
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Next, generate PCR products containing a low number of random mutations, including ones that produce drug-resistant proteins.
Their mutations included one likely deleterious BRCA2 variant, two deleterious BRCA2 variants, and a likely deleterious FH (Fumarate hydratase, causative of Hereditary Leiomyomatosis and Renal Cell Cancer) variant.
These mutations included one (10%) of ten low-grade (grade 1) tumours, four (50%) of eight intermediate-grade (grade 2) tumours and three (25%) of 12 high-grade (grade 3) tumours.
An LDLR mutation, including one CNV (Supplement Fig. S1) was found in 28% (n = 7) of sequenced individuals (Table 1), which accounted for 70% of the estimated FH in WHII.
The final FTLD patient cohort counted 13 unrelated patients carrying a GRN loss-of-function mutation including one patient of the GRN IVS1 + 5G > C founder family (Cruts et al., 2006; Gijselinck et al., 2008), and two unrelated patients with the VCP R159H mutation (van der Zee et al., 2009).
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