For example, C > T mutations were extended to include C > T with (5′ adenine): Ap CpA, Ap CpC, Ap CpG, Ap CpT; (5′ cytosine): Cp CpA, Cp CpC, Cp CpG, Cp CpT; (5′ guanine): Gp CpA, Gp CpC, Gp CpG, Gp CpT; and (5′ thymine): Tp CpA, Tp CpC, Tp CpG, Tp CpT.
Mutation analysis was extended to additional 408 patients with NS or a clinically related phenotype tested negative for mutations in the major NS disease genes (see Materials and Methods), allowing to identify one sporadic case heterozygous for a three-nucleotide duplication (c.116_118dup, p.Gly39dup) (Supplementary material, Fig. S2).
In order to investigate whether other mammalian lineages could also have their genomes pre-compensating for COIII-Leu251 and CYB-Ser251 mutations the phylogenetic analysis was extended.
In patients with a strong family history but for whom no mutations were detected, analysis was extended to exons 10 and 11 of the BRCA2 gene, followed by MLPA analysis for screening for large genomic rearrangements.
Because of the high frequency of the p.I171V mutation, the control group was extended to 2400 individuals.
In three of the four families with a BRCA2 gene mutation, the molecular analysis was extended to ten non-affected relatives, (six males and four females), allowing the identification of 5 additional BRCA2 mutation carriers (2 males and 3 females).
Through these mutations the small pocket chamber was extended in order to tolerate bulkier residues.[ 21] The same enzyme was used to convert 3-methylcyclohexan-1-one into the corresponding amines (for details see Scheme 7 and Section 5.1).
In order to identify potential frameshifts or point mutations in the sequence, the gene was extended 300 nucleotides upstream and downstream of the predicted coding region.
The BRCA1 and BRCA2 mutations screening program in Italian population was extended in BC patients from Apulia where two major missense polymorphisms, including S1613G (exon 16) and K1183R (exon11), were identified in BRCA1 gene contributing to BC risk [ 21].
Furthermore, the aforementioned murine study was extended from studies of homologous mutations in haploid yeast.
