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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 ...
Mutação de transformações para teste de programas Spark
(Universidade Federal do Rio Grande do NorteBrasilUFRNPROGRAMA DE PÓS-GRADUAÇÃO EM SISTEMAS E COMPUTAÇÃO, 2020-07-31)
The growth in the volume of data generated in the last years, a phenomenon known
as Big Data, presented a series of challenges for its collection, storage and, especially,
processing because they require important ...
Reduzindo o custo do teste de mutação com base no conceito de arcos primitivos
(Universidade Federal de São CarlosUFSCarPrograma de Pós-Graduação em Ciência da Computação - PPGCCCâmpus São Carlos, 2021-02-02)
Context: Software testing plays an important role in quality assurance. Testing techniques and criteria help the tester to develop and assess test suites. Mutation testing is a fault-based testing criterion commonly used ...
Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study
(Springer, 2015)
Molecular diagnosis is a useful diagnostic tool in primary nephrogenic diabetes insipidus (NDI), an inherited disease characterized by renal inability to concentrate urine. The AVPR2 and AQP2 genes were screened for mutations ...
Newborn hearing screening and genetic testing in 8974 Brazilian neonates
(Elsevier Ireland LtdClareIrlanda, 2010)
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients
(Scientific Reports, 2017-07-05)
Pathogenic BRCA1/2 germline mutations confer high risks of breast and ovarian cancer to women of European ancestry. Characterization of BRCA1/2 mutations in other ethnic groups is also medically important. We comprehensively ...
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
(1998-11-01)
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 ...
Effectiveness Assessment of an Early Testing Technique using Model-Level Mutants
(Association for Computing Machinery, 2017)
While modern software development technologies enhance the capabilities of model-based/driven development, they introduce challenges for testers such as how to perform early testing at model level to ensure the quality of ...
HFE gene mutations in Brazilian thalassemic patients
(2006-12-01)
Hereditary hemochromatosis is a disorder of iron metabolism characterized by increased iron intake and progressive storage and is related to mutations in the HFE gene. Interactions between thalassemia and hemochromatosis ...