Search for dissertations about: "CDG 1a"

Found 1 swedish dissertation containing the words CDG 1a.

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

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

    Abstract : 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. READ MORE