Search for dissertations about: "SILENT MUTATIONS"
Showing result 1 - 5 of 14 swedish dissertations containing the words SILENT MUTATIONS.
-
1. HEMOPHILIA A AND B WITH SPECIAL REFERENCE TO INHIBITOR DEVELOPMENT AND EXPERIMENTAL STUDIES OF FACTORS VIII AND IX
Abstract : The general objective of the research underlying this dissertation was to conduct clinical and basic scientific studies to further elucidate the hemophilia and the coagulation process, with the goal of improving the care of families with these disorders. More specific aims were to evaluate epidemiological, genetic, clinical, and biochemical aspects of the development of inhibitors (antibodies) against FVIII and FIX in Swedish patients with hemophilia A and B (papers I, II, and III). READ MORE
-
2. Hunting a Silent Killer. Biomolecular Approaches in Ovarian Cancer
Abstract : Ovarian cancer is a heterogeneous disease and recent advances in improving patient outcome havebeen limited. It is estimated that a woman’s risk of developing ovarian cancer during her lifetime is about 1 in 70, making it a frequently occurring cancer type in women. READ MORE
-
3. Hereditary Breast Cancer in South Sweden. Early findings from studies on the role of BRCA1
Abstract : The thesis presents the results from investigations into the role of BRCA1 in hereditary cancer in South Sweden. Loss of heterozygosity (LOH) studies found loss of the wildtype allele of BRCA1 to be common in BRCA1 associated breast cancer, but due to the high degree of LOH on chr. READ MORE
-
4. The role of telomerase reverse transcriptase in human malignancies : genetic polymorphisms and promoter mutations
Abstract : Telomerase is a ribonucleoprotein with its catalytic subunit telomerase reverse transcriptase (TERT) as a key component, lengthening telomeres. In differentiated human cells, telomerase is silent due to the transcriptional repression of the TERT gene, but activated in oncogenesis. READ MORE
-
5. Molecular characterisation of antibiotic resistance in Mycobacterium tuberculosis
Abstract : To counteract the emergence of multi-drug resistant tuberculosis (MDR-TB) a number of approaches have been proposed, amongst which are the sound usage of the present anti-TB drugs and the development of prompt and specific tools for the diagnosis of resistance. To examine the role of drugs in the treatment of resistant TB, we investigated the general crossresistance between kanamycin and amikacin, which has been reported in numerous studies. READ MORE