نتایج جستجو برای: pms2
تعداد نتایج: 505 فیلتر نتایج به سال:
Substitutions that disrupt pre-mRNA splicing are a common cause of genetic disease. On average, 13.4% of all hereditary disease alleles are classified as splicing mutations mapping to the canonical 5' and 3' splice sites. However, splicing mutations present in exons and deeper intronic positions are vastly underreported. A recent re-analysis of coding mutations in exon 10 of the Lynch Syndrome ...
Background and Objectives: The advent of multi-source generic drugs has exacerbated the prevalence spread counterfeit sub-standard requiring increased vigilance collaboration from drug regulatory authorities. Post-marketing surveillance (PMS) medicines therefore plays an important role in detecting poor quality products on market. Risk-Based Post-Market Surveillance (RB-PMS) RB-PMS helps optimi...
A previously unrecognized mismatch repair activity is described. Extracts of immortalized MSH2-deficient mouse fibroblasts did not correct most single base mispairs. The same extracts carried out efficient repair of A/C mismatches. A/G mispairs were less efficiently corrected and there was no significant repair of A/A. MLH1-defective mouse extracts also repaired an A/C mispair. A/C correction b...
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