Sökning: "sequence variant"

Visar resultat 1 - 5 av 142 avhandlingar innehållade orden sequence variant.

  1. 1. Autoimmune disease – phenotypic alterations of peripheral immune cells and clinical correlates

    Författare :Evelina Elmér; Avdelningen för hematologi och transfusionsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ANCA-associated vasculitis; immunization; relapse; rheumatoid arthritis; sequence variant;

    Sammanfattning : .... LÄS MER

  3. 2. Molecular Genetic Studies of the Blood Group ABO Locus in Man

    Författare :Martin L Olsson; Avdelningen för hematologi och transfusionsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chi sequence; recombination; population studies; blood group serology; erythrocyte; blood transfusion; sequencing; DNA; PCR; genomic; Blood group ABO; allele; Immunology; serology; transplantation; Immunologi; serologi; Clinical genetics; Klinisk genetik;

    Sammanfattning : The ABO blood group system is undoubtedly the most important genetic and phenotypic marker in clinical transfusion medicine. The A and B determinants are immunodominant, terminally located carbohydrate residues of glycoconjugates on erythrocytes and other cell surfaces. LÄS MER

  4. 3. Fungal molecular ecology in boreal forests and challenges associated with unidentified environmental DNA sequences

    Författare :Kerri Kluting; Anna Rosling; Martin Ryberg; Sara Branco; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; amplicon sequence variant ASV ; Archaeorhizomycetes; environmental DNA sequencing; high-throughput sequencing; integrative taxonomy; pine forest; podzol soil profile; Pucciniomycotina; Tomicus piniperda; voucherless specimens; Biology with specialization in Evolutionary Genetics; Biologi med inriktning mot evolutionär genetik;

    Sammanfattning : Many fungi are characteristically difficult to observe and collect, making the process of documenting the world’s fungal diversity challenging. The vast majority of fungal species are undescribed. LÄS MER

  5. 4. Long QT syndrome in Sweden : founder effects and associated cardiac phenotypes

    Författare :Annika Winbo; Annika Rydberg; Eric Schulze-Bahr; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Long QT Syndrome; Jervell and Lange-Nielsen Syndrome; inherited arrhythmia; founder effects; clinical genetics; haplotype analysis; mutation age; founder mutation; clinical phenotype; life-threatening cardiac events; mutation-specific; KCNQ1 gene; modifier genes; sequence variants; risk stratification; risk factor; gender; pediatrik; Pediatrics;

    Sammanfattning : Background: We aimed to increase the knowledge regarding the familial arrhythmogenic disorder Long QT Syndrome (LQTS) and its recessive variant Jervell and Lange-Nielsen Syndrome (JLNS) in Sweden, including prevalences and clinical phenotypes. A specific focus was directed towards two KCNQ1 mutations –p.Y111C and p. LÄS MER

  7. 5. Protein folding variants, for better or for worse? The lesson learned from HAMLET

    Författare :Malin Svensson; immunologi och glykobiologi - MIG Avdelningen för mikrobiologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Clinical biology; prion; apo; fatty acid; apoptosis; lactalbumin; folding variant; Klinisk biologi;

    Sammanfattning : By varying its secondary or tertiary structure a single protein can attain new biological functions. The amyloid forming proteins are the best known examples where a change in conformation leads to the formation of amyloid fibrils that accumulate in tissues and cause disease. LÄS MER