Sökning: "haplotype"

Visar resultat 11 - 15 av 249 avhandlingar innehållade ordet haplotype.

  1. 11. Synthesis, Function, and Inactivation of Blood Coagulation Factor V

    Författare :Kristoffer Sørensen; Malmö Klinisk kemi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; activated protein C; heparin; calcium binding; R2 haplotype; Blood Coagulation; Factor V; Clinical chemistry; Klinisk kemi;

    Sammanfattning : Blood coagulation factor V (FV) is a 330 kDa plasma glycoprotein. Activated FV (FVa) is a non-enzymatic cofactor to activated Factor X in the activation of prothrombin that occurs during coagulation. LÄS MER

  3. 12. 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

  4. 13. Finding Genes for Schizophrenia

    Författare :Karolina Åberg; Elena Jazin; Eva Lindholm; Eric Sobel; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; psychiatric genetics; QKI; large pedigree; haplotype investigation; mRNAexpression; genetic linkage; myelin; HTR2C; Biology; Biologi;

    Sammanfattning : Schizophrenia is one of our most common psychiatric diseases. It severely affects all aspects of psychological functions and results in loss of contact with reality. No cure exists and the treatments available today produce only partial relief for disease symptoms. LÄS MER

  5. 14. Statistical Methods for Genome Wide Association Studies

    Författare :Malin Östensson; Göteborgs universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Genome Wide Association Studies; gene-gene interactions; Genotype imputation; allele sharing; haplotype sharing; Single Nucleotide Polymorphism; Celiac Disease; haplotype sharing;

    Sammanfattning : This thesis focus on various statistical methods for analyzing Genome Wide Association data. The thesis include four papers, three of them considers the analysis of complex traits, and the last one a method for analyzing mendelian traits. LÄS MER

  7. 15. Genes of the serotonergic system and susceptibility to psychiatric disorders : a gene-based haplotype approach

    Författare :Ghazal Zaboli; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Borderline Personality Disorder; Candidate genes; Case-control; Depression; Gene-based haplotypes; Linkage Disequilibrium; Schizophrenia; SNP.;

    Sammanfattning : Psychiatric disorders are complex, non-mendelian disorders. Complex disorders are ultimately determined by a number of genetic and environmental factors, and the effect of each factor may be obscured or confounded by others. LÄS MER