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The frequency of 844ins68 mutation in the cystathionine beta-synthase gene is not increased in patients with venous thrombosis
(Ferrata Storti Foundation, 1998-11-01)
Background and Objectives. A frequent mutation in the cystathionine beta-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 ...
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)
Mutation rates for 20 STR loci in a population from São Paulo state, Southeast, Brazil
(2017-10-03)
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 ...
Nphs1 Gene Mutations Confirm Congenital Nephrotic Syndrome In Four Brazilian Cases: A Novel Mutation Is Described
(Wiley-BlackwellHoboken, 2016)
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, ...
The Mutation-drift Balance In Spatially Structured Populations
(Academic Press Ltd- Elsevier Science LtdLondon, 2016)
Newborn hearing screening and genetic testing in 8974 Brazilian neonates
(Elsevier Ireland LtdClareIrlanda, 2010)
ROOT PROBLEM FOR CONVENIENT MAPS
(JULIUSZ SCHAUDER CTR NONLINEAR STUDIESTORUN, 2010)
In this paper we study when the minimal number of roots of the so-called convenient maps horn two-dimensional CW complexes into closed surfaces is zero We present several necessary and sufficient conditions for such a map ...