Sökning: "genetic markers"
Visar resultat 16 - 20 av 604 avhandlingar innehållade orden genetic markers.
16. Genetic investigations of four neurological disorders : From phenotype to mutation
Sammanfattning : More than 5000, more or less rare, genetic diseases are known in man. A genetic disease is in most casesinherited from one generation to the next, and is caused by a change in the genetic code, a mutation. LÄS MER
17. Genetic studies of hypospadias
Sammanfattning : Hypospadias is defined as an abnormal opening of the urethra on the underside of the penis. It is a frequently found malformation with an incidence of 3 per 1000 males. The aim of this thesis was to identify genetic and environmental factors in the pathogenesis of hypospadias. LÄS MER
18. Genetic Analyses of Multiple Sclerosis and Systemic Lupus Erythematosus : From Single Markers to Genome-Wide Data
Sammanfattning : In autoimmune diseases an individual’s immune system becomes targeted at the body’s own healthy cells. The aim of this thesis was to identify genetic risk factors for the two autoimmune diseases multiple sclerosis (MS) and systemic lupus erythematosus (SLE). LÄS MER
19. Milk Genomics – Impact of Genetic Polymorphism on Bovine Milk Composition and Processability
Sammanfattning : Milk genomics is a new area of research that explores the relations between cow genetics and milk characteristics. Identifying the genes controlling compositional and technological traits of milk will give opportunities to select cows for targeted milk production. In this thesis, the impact of different genetic approaches, i.e. LÄS MER
20. Modelling and genetic correction of liver genetic diseases
Sammanfattning : The urea cycle is a set of biochemical reactions that converts highly toxic ammonia into urea for excretion. Deficiencies in any of the genes of the cycle can be life-threatening, with liver transplantation currently being the only definitive treatment. LÄS MER