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We did find that, in the region of the complex mutation (MA Line 58, Chromosome II, positions 4,273,519 4,274,319), additional mutations not identified in next-generation sequencing data were present (i.e., false negatives).
Fourteen of the other isolates, which represent the CDC-defined East South Central (AL), West South Central (LA and TX), East North Central (IL), and Mountain (CO) regions (3), all share two unique nucleotide mutations not identified in other isolates.
At the least the TG levels according to the genotype might be shown in table 2. The authors must indicate that other genetic defects, such a gross deletions or regulatory mutations not identified by sequencing methods or by analysis of exons, may cause a loss-of-function of APOC3 and might be associated with decreased triglyceride levels and a reduced risk of ischemic vascular disease.
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However, although the total number of current known SNPs in dbSNP is very huge, there are still unknown SNPs or mutation not identified.
In addition, 3 strains had non-identified mutations (no hybridization with the wild-type and mutation probes), and therefore were considered as having a mutation not identified by the mutations probes.
Almost all patients carried two mutations in the compound heterozygous or homozygous state: only in four cases, mutations were not identified in both alleles.
Mutations were not identified in 17 resistant samples (85.5% sensitivity) and 10 drug susceptible samples were found to harbour mutations associated with resistance (94.9% specificity).
Pathogenic mutations were not identified in any of the 279 ALS cases.
These novel mutations were not identified in any of the parental C2 clones.
SDHB mutations were not identified in 6 of the 14 metastatic tumors in this study.
ALAS2 mutations were not identified in cases 11, 12, 13, and 14.
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CEO of Professional Science Editing for Scientists @ prosciediting.com