Sökning: "homozygous form"

Visar resultat 1 - 5 av 42 avhandlingar innehållade orden homozygous form.

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

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

    Sammanfattning : 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. LÄS MER

  3. 2. Venous thromboembolism with special focus on genetic and potential acquired risk factors

    Författare :SIGNY SVEINSDOTTIR; Malmö Klinisk koagulationsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Venous thromboembolism VTE ; Epidemiology; Risk factors; factor V leiden FVL ; Recurrence risk; Inflammation; renal function; Warfarin;

    Sammanfattning : Venous thromboembolism (VTE) is a relatively common cause of morbidity and mortality. It has an annual incidence of around 0.1- 0.3%. LÄS MER

  4. 3. Effect of experimental complex III deficiency on respiratory chain assembly and function

    Författare :Mina Davoudi; Lund Pediatrik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : The assembly of respiratory chain complexes in the mitochondrial inner membrane requires specific factors. Once assembled to form a mature functional complex, complex III (CIII) is a dimer consisting of two monomers, each with eleven subunits. LÄS MER

  5. 4. Norrbottnian congenital insensitivity to pain

    Författare :Jan Minde; Göran Toolanen; Li Tsai-Fällender; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pain insensitivity; HSAN; Orthopaedics; Ortopedi;

    Sammanfattning : Congenital insensitivity to pain is a rare hereditary neuropathy. We present patients from a large family in Norrbotten, Sweden with a mutation in the nerve growth factor β gene (NGFß). Using a model of recessive inheritance, we identified an 8.3-Mb region on chromosome 1p11. LÄS MER

  7. 5. Genetics of primary immunodeficiency diseases

    Författare :Javad Mohammadi; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :HLA Antigens; IgA deficiency; Common variable immunodeficiency; immunogenetics; immunodeficiency; TACI;

    Sammanfattning : Selective IgA deficiency (IgAD) (serum IgA concentration of T), which abolished expression of the TACI molecule. In addition, we found the previously recognized C104R and C172Y mutations in a heterozygous form in 2 patients with CVID and one, novel, heterozygous P42T mutation. LÄS MER