Sökning: "Sjögren-Larsson syndrome"

Hittade 3 avhandlingar innehållade orden Sjögren-Larsson syndrome.

  1. 1. Sjögren-Larsson syndrome in Sweden : an epidemiological, genetic, clinical and biochemical study

    Författare :Sten Jagell; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Sjögren-Larsson syndrome; spastic diplegia; spastic tetraplegia; mental retardation; congenital ichthyosis; macular changes;

    Sammanfattning : The Sjögren-Larsson syndrome (SLS) is a genetically determined syndrome with autosomal recessive inheritance originally and comprehensively described from Sweden. It is characterized by the three cardinal signs congenital ichthyosis, spastic di- or tetraplegia and mental retardation. LÄS MER

  3. 2. Molecular genetic studies of three autosomal recessive disorders : Sjögren-Larsson syndrome, glutathione synthetase deficiency and congenital ichthyosis

    Författare :Maritta Pigg; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Sjögren-Larsson syndrome; glutathione synthetase deficiency; congenital ichthyosis; linkage analysis; allelic association; mutation analysis; transglutaminase 1 gene; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Sammanfattning : Investigations at the DNA level were performed in order to characterise the molecular basis forthree genetic disorders:Sjögren-Larsson syndrome (SLS) is characterised by congenital ichthyosis and severeneurological symptoms. Linkage analysis and allelic association of 24 Swedish families affectedby SLS showed linkage between the disease and the marker D17S805 on chromosome 17. LÄS MER

  4. 3. Genetic investigations of four neurological disorders : From phenotype to mutation

    Författare :Anna Sillén; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pediatrics; genetic disease; chromosome; microsatellite; linkage analysis; mutation; Pediatrik; Paediatric medicine; Pediatrisk medicin; klinisk genetik; Clinical Genetics;

    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