Sökning: "mutation-specific"
Hittade 4 avhandlingar innehållade ordet mutation-specific.
1. Long QT syndrome in Sweden : founder effects and associated cardiac phenotypes
Sammanfattning : 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. LÄS MER
2. Blood- and tumor-based analyses for improved prognostics in lung cancer
Sammanfattning : Lung cancer is a common cancer type associated with poor prognosis. Even in the group of patients with earlystage tumors, for which curative treatment is possible, lung cancer recurrence is frequent. LÄS MER
3. Biomarkers in preclinical familial Alzheimer disease
Sammanfattning : Background: Alzheimer disease (AD) is a neurodegenerative disorder, characterized by the accumulation of b-amyloid (Ab) plaques and tangles consisting of hyperphosphorylated tauprotein in the brain. It accounts for 60-70% of dementia cases, making it the most common cause of dementia. LÄS MER
4. Clinical implementation of novel diagnostic biomarkers for epithelial ovarian cancer - Can we improve diagnosis?
Sammanfattning : Background: Epithelial ovarian cancer (EOC) is the most lethal gynecologic cancer. The 5-year survival is about 30%, a consequence of failure to establish early diagnosis due to unspecific symptoms. LÄS MER