Now showing items 21-30 of 7125
An analysis of the spontaneous mutation rate measurement in filamentous fungi
(Soc Brasil GeneticaRibeirao PretBrasil, 2003)
PIK3CA exon 20 mutations are associated with poor prognosis in breast cancer patients
(HOSPITAL CLINICAS, UNIV SAO PAULOSAO PAULO, 2012)
OBJECTIVES: The phosphatidylinositol 3-kinase/AKT axis is an important cell-signaling pathway that mediates cell proliferation and survival, two biological processes that regulate malignant cell growth. The phosphatidylinositol ...
Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency
(Scandinavian University PressOsloNoruega, 1999)
The frequency of 844ins68 mutation in the cystathionine β-synthase gene is not increased in patients with venous thrombosis
Background and Objectives. A frequent mutation in the cystathionine β- synthase (CBS) gene (844ins68, a 68-bp insertion in the coding region of exon 8) was recently discovered. In the present study we investigated this ...
Mutation rates for 20 STR loci in a population from São Paulo state, Southeast, Brazil
Short tandem repeats (STRs) are genetic markers largely employed in forensic analysis and paternity investigation cases. When an inconsistency between the parent and child is considered as a possible mutation, the mutation ...
A model of complete random molecular evolution by recurrent mutation
A model for random molecular evolution based on recurrent mutation is proposed. Recurrent mutation replaces completely any original base in a nucleotidic site. This occurs if more than four times the number of reproductive ...
Molecular analysis of the eighteen most frequent mutations in the BRCA 1 gene in 63 Chilean breast cancer families
(Society of Biology of Chile, 2004)
BRCA1 gene mutations account for nearly all families with multiple cases of both early onset breast and/or ovarian cancer and about 30% of hereditary breast cancer. Although to date more than 1,237 distinct mutations, ...
Nphs1 Gene Mutations Confirm Congenital Nephrotic Syndrome In Four Brazilian Cases: A Novel Mutation Is Described