Search for dissertations about: "mutation age"
Showing result 1 - 5 of 196 swedish dissertations containing the words mutation age.
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1. Long QT syndrome in Sweden : founder effects and associated cardiac phenotypes
Abstract : Background: We aimed to increase the knowledge regarding the familial arrhythmogenic disorder Long QT Syndrome (LQTS) and its recessive variant Jervell and Lange-Nielsen Syndrome (JLNS) in Sweden, including prevalences and clinical phenotypes. A specific focus was directed towards two KCNQ1 mutations –p.Y111C and p. READ MORE
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2. Genetics of diabetic subtypes
Abstract : There are two major types of diabetes mellitus, Type 1 Diabetes (T1D) and Type 2 Diabetes (T2D), however a number of subtypes have been defined and classified. Maternally Inherited Diabetes and Deafness (MIDD) and Maturity Onset Diabetes of the Young (MODY) are monogenic forms, whereas Latent Autoimmune Diabetes in Adults (LADA) is thought to be a polygenic subtype similar to T1D. READ MORE
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3. On the genetics of hereditary breast/ovarian cancer. BRCA1, BRCA2 and beyond
Abstract : Breast cancer is the most common malignancy in women. Most of the breast cancers are sporadic with no apparent inheritance factor but about 5-10% is believed to be caused by an inherited predisposition. Aims: This thesis aimed at defining the BRCA1/2 mutation spectrum of the west Swedish population and specifically to characterize the BRCA1c. READ MORE
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4. Malignant Melanoma in southern Sweden; Histopathology, Prognosis and Aetiology
Abstract : The purpose was to study the prognostic and aetiologic risk factors for melanoma in correlation to histopathology. Paper 1-3: Thin tumours (... READ MORE
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5. Molecular Genetic Alterations In Endometrial And Ovarian Cancers
Abstract : Endometrial cancer is the most common gynecological cancer diagnosed in western countries. Complex atypical hyperplasia (CAH) reflects a state of hyperestrinism and its role as a precursor lesion of this cancer is established. READ MORE