Sökning: "THBD"

Hittade 3 avhandlingar innehållade ordet THBD.

  1. 1. Genetics, epigenetics and functional mechanisms in inherited corneal and retinal dystrophies

    Författare :Ida Maria Westin; Irina Golovleva; Berit Byström; Marie Burstedt; Ola Sandgren; Sudha Iyengar; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Epigenetics; Splicing; Methylation; Ophtalmology; FECD; Stargardt; Retinitis pigmentosa; ABCA4; EYS; TCF4; F5; THBD; Coagulation factor V; Thrombomodulin; medicinsk genetik; Medical Genetics;

    Sammanfattning : Inherited eye disorders (IED) are groups of genetically and clinically heterogenous conditions affecting different tissues in the eye. IED are most often progressive with reduced vision or legal blindness as outcome. LÄS MER

  3. 2. Identification of genetic biomarkers for the risk prediction of recurrent venous thromboembolism. Risk prediction of recurrent VTE

    Författare :Abrar Ahmad; Allmänmedicin och klinisk epidemiologi; []
    Nyckelord :Recurrent venous thromboembolism; Genetic risk score; Multibiomarker;

    Sammanfattning : Background: Venous thromboembolism (VTE) is the third most frequent life-threatening cardiovascular disease with an annual incidence rate of 1-2 per 1000 person-years. After the diagnosis for primary VTE, about 20-30% patients develop a recurrence within 5-years. LÄS MER

  4. 3. Complement-mediated kidney diseases: Genotype, phenotype and inhibition studies

    Författare :S.S. Aradottir; Lund Pediatrik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; The complement system; factor B; factor D; danicopan; Atypical hemolytic uremic syndrome; C3 glomerulopathy; Membranoproliferative glomerulonephritis; genes; monozygotic twins;

    Sammanfattning : Complement-mediated kidney diseases are ultrarare conditions characterized by excess complement activation related in most cases to complement gene variants or circulating autoantibodies. These conditions are chronic and can lead to kidney failure. LÄS MER