Sökning: "rare DNA"

Visar resultat 6 - 10 av 153 avhandlingar innehållade orden rare DNA.

  1. 6. Molecular genetics of human carbohydrate defined blood groups. Studies of the ABO and P blood group systems

    Författare :Rudi Steffensen; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ABO blood group system; P blood group system; carbohydrate antigen; DNA; sequencing; populations studies; expression studies;

    Sammanfattning : The aim of this study was to explore the molecular genetics of the carbohydrate defined blood group ABO and P systems.The blood group ABO system is the clinically most significant system in transfusion medicine. Using modern molecular biology, a number of the ABO alleles have been characterized. LÄS MER

  3. 7. The Gnetales: fossils and phylogenies

    Författare :Catarina Rydin; Else Marie Friis; Mari Källersjö; Ulf Swensson; Susana Magallón; Stockholms universitet; []
    Nyckelord :seed plants; Gnetales; Ephedra; fossils; DNA; phylogeny; morphology;

    Sammanfattning : The phylogeny of seed plants has been debated for more than a hundred years and is still not fully understood. Morphological analyses have consistently resulted in a phylogeny in which cycads are the earliest diverging seed plants, and Gnetales and angiosperms are sisters. Molecular data has, however, rarely supported this result. LÄS MER

  4. 8. Heredity in Parkinson's disease. From rare mutations to common genetic risk factors

    Författare :Andreas Puschmann; Sektion IV; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Parkinson s disease; parkinsonism; genetics; alpha-synuclein; SNCA duplicaion; SNCA triplication; LRRK2; PARKIN; PARK2; VPS35; EIF4G1; rare variants; digenic inheritance; heritability;

    Sammanfattning : This study investigated genetic causes of Parkinson's disease (PD) and parkinsonism in southern Sweden. The extensive Lister Family with parkinsonism caused by duplications and triplications of the gene for alpha-synuclein (SNCA) was studied. Clinical, genetic and genealogical data were compiled and evaluated. LÄS MER

  5. 9. DNA methylation in T cell leukaemia

    Författare :Maike Bensberg; Colm Nestor; Maria Jenmalm; Sofie Degerman; Linköpings universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : T cell acute lymphoblastic leukaemia (T-ALL) is a predominantly paediatric cancer that stems from malignant transformation of developing T cells. While the disease has an overall survival rate of 80%, the intense chemotherapy treatment causes severe toxicity and long-term side effects. LÄS MER

  7. 10. Small Intestinal Neuroendocrine Tumor : A Rare Malignancy with Favorable Outcome

    Författare :Olov Norlén; Peter Stålberg; Per Hellman; Peyman Björklund; Anders Sundin; Peter Naredi; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neuroendocrine tumor; peritoneal carcinomatosis; single nucleotide polymorphism array; liver metastases; radiofrequency ablation; liver surgery; positron emission tomography; somatostatin analogs; cholecystectomy; Kirurgi; Surgery;

    Sammanfattning : Small intestinal neuroendocrine tumor (SI-NET) is the most common small bowel tumor in Europe and USA, with an annual incidence of around 0.3-1.3/100000 persons. LÄS MER