Search for dissertations about: "chromosome 2p13"

Found 3 swedish dissertations containing the words chromosome 2p13.

  2. 1. Welander distal myopathy : clinical and genetic studies

    Author : Gabrielle Åhlberg; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Welander distal myopathy; neurogenic component; rimmed vacuoles; linkage; chromosome 2p13; candidate genes; common founder; homozygous form; variable clinical expression;

    Abstract : Distal myopathies are a group of muscular disorders described in many countries with different inheritance patterns and variable progression rates. Welander distal myopathy (WDM) is characterised by autosomal dominant inheritance, late onset and distal distribution of muscular weakness. Most cases originate from the middle parts of Sweden. READ MORE

  4. 2. Welander distal myopathy : gene mapping and analysis of candidate genes

    Author : Désirée von Tell; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Welander Distal Myopathy; 2p13; linkage; candidate genes; founder mutation; mutation screening.;

    Abstract : 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. READ MORE

  5. 3. The immortalization process of T cells : with focus on the regulation of telomere length and telomerase activity

    Author : Sofie Degerman; Göran Roos; John Sedivy; Umeå universitet; []
    Keywords : immortalization; senescence; T cells; Nijmegen breakage syndrome; telomere; telomerase; hTERT; generic aberrations; methylation; MEDICINE; MEDICIN; Pathology; patologi;

    Abstract : Cellular immortalization is a major hallmark of cancer and is a multi-step process that requires numerous cell-type specific changes, including inactivation of control mechanisms and stabilization of telomere length. The telomeres at the chromosome ends are essential for genomic stability, and limit the growth potential of most cells. READ MORE