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.
The screening for SOX17 mutations was extended to 178 individuals with sporadic VUR and in 305 controls consisting of 135 children with nephrotic syndrome, 88 normal subjects without a history of urinary infection who were not further characterized, and 82 cord blood samples (610 chromosomes).
Blood samples were obtained from each proband and after the identification of a specific mutation the analyses were extended to 98 relatives.
Thus, the previously defined 96 substitution types were extended to 192 mutation types.
Internal communications were extended.
Here, we present results indicating that the expulsion phenotype associated with ph mutations can be extended to a second model epithelium in Drosophila, the follicular epithelium of the ovary.
The set of somatic mutations can be extended to contain loss of heterozygosity (LOH) sites for which the non-reference allele is overrepresented in the cancer cell relative to a normal cell.
Although, the results were not statistically significant, probably due to the small number of cells evaluated, this suggests that mutually exclusive BRG1 and MYC mutations can be extended to other tumour types and that BRG1 may play an important role in neuroblastomas that are negative for MYC amplification.
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 brief, with this array, DNA is amplified and treated with shrimp alkaline phosphatase to neutralise unincorporated deoxyribonucleotide triphosphates, the mutation site is extended and the sample is read by matrix-assisted laser desorption/ionisation time-of-flight (MALDI-TOF) mass spectrometry analysis.
The clinical spectrum associated with VCP mutations has recently been extended to include also ALS (177).
