Sökning: "lod score"
Visar resultat 21 - 25 av 25 avhandlingar innehållade orden lod score.
21. Genetic study of autosomal dominant progressive external ophthalmoplegia and familial myasthenia gravis : linkage analysis, candidate gene cloning and mutation detection
Sammanfattning : Identification of genes responsible for familial human diseases is a major task of medical genetics. In this process, linkage analysis, candidate gene screening and mutation detection are the three major steps (Paper I-VI). LÄS MER
22. Candidate genes and chromosomal loci in multiple sclerosis
Sammanfattning : Multiple sclerosis (MS) is a demyelinating disorder of the central nervous system with a putatively autoimmune etiology. The pathophysiological basis of MS is incompletely known, although both genetic and environmental factors are presumed to be of importance. LÄS MER
23. Welander distal myopathy : gene mapping and analysis of candidate genes
Sammanfattning : Distal myopathies constitute of a very heterogeneous group of muscular disorders. Distal myopathies have previously been classified according to features such as; clinical symptoms, age of onset and histopathological changes. LÄS MER
24. Genetic studies of frontotemporal dementia : with particular emphasis on the tau gene
Sammanfattning : Frontotemporal dementia (FTD) is next to Alzheimer's disease one of the common causes of early onset progressive dementia. FTD is mainly characterized by personality changes such as disinhibition, although there are large clinical and neuoropathological variations among the cases. LÄS MER
25. Identification and characterization of candidate genes for type 2 diabetes in the GK rat
Sammanfattning : Type 2 diabetes is a common multifactorial disorder with complex genetics, which presents with a heterogeneous clinical phenotype as a result of interaction between genetic susceptibility and environmental risk factors. Hence, the search for susceptibility genes for type 2 diabetes in man is difficult. LÄS MER
