Sökning: "PMM2"

Hittade 2 avhandlingar innehållade ordet PMM2.

  1. 1. Genotype/ phenotype correlation of two neuropsychiatric diseases. A genetic study of CDG1a and Rett syndrome

    Författare :Anna Erlandson; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Nyckelord :CDG 1a; PMM2; Rett syndrome; MECP2; mutations; genotype phenotype; DHPLC; MLPA;

    Sammanfattning : The aim of this thesis was to investigate the effects of mutations in the genes that cause the two neuropsychiatric diseases congenital disorder of glycosylation (CDG) type Ia and Rett syndrome. These two diseases affect children's central and peripheral nervous systems, causing mental retardation and neuronal impairment. LÄS MER

  3. 2. Genetics of the carbohydrate-deficient glycoprotein syndrome type Ia

    Författare :Cecilia Bjursell; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; CDG Ia; PMM2; chromosome 16; linkage; linkage disequilibrium; prenatal diagnosis;

    Sammanfattning : In recent years, a revolution in the development of new techniques have made it possible to perform genetic studies of inherited disorders without prior knowledge about the gene product or the function of the gene. The techniques include linkage studies, allelic association studies, physical mapping and the sequencing of candidate genes for finding disease causing mutations. LÄS MER