Sökning: "mutation"

Visar resultat 1 - 5 av 1100 avhandlingar innehållade ordet mutation.

  1. 1. Genetic investigations of four neurological disorders : From phenotype to mutation

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Anna Sillén; [1997]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pediatrics; genetic disease; chromosome; microsatellite; linkage analysis; mutation; Pediatrik; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Internal medicine Paediatric medicine; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Invärtesmedicin Pediatrisk medicin; klinisk genetik; Clinical Genetics;

    Sammanfattning : More than 5000, more or less rare, genetic diseases are known in man. A genetic disease is in most casesinherited from one generation to the next, and is caused by a change in the genetic code, a mutation. LÄS MER

  2. 2. Long QT syndrome in Sweden founder effects and associated cardiac phenotypes

    Detta är en avhandling från Umeå : Umeå universitet

    Författare :Annika Winbo; Annika Rydberg; Eric Schulze-Bahr; [2012]
    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; Pediatrics; pediatrik;

    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

  3. 3. Bioinformatic Analysis of Mutation and Selection in the Vertebrate Non-coding Genome

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Mikael Brandström; Uppsala universitet.; [2007]
    Nyckelord :Biology; non-coding genome; selection; mutation; chicken; human; indel; microsatellite; sequence alignment; comparative genomics; bioinformatics; vertebrate; Biologi;

    Sammanfattning : The majority of the vertebrate genome sequence is not coding for proteins. In recent years, the evolution of this noncoding fraction of the genome has gained interest. These studies have been greatly facilitated by the availability of full genome sequences. LÄS MER

  4. 4. Mutation and Diversity in Avian Sex Chromosomes

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Hannah Sundström; Hans Ellegren; David W. Burt; [2003]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; mutation rate; diversity; sex chromosomes; indels; male bias; selective sweep; effective population size; birds; Genetik; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Klinisk genetik;

    Sammanfattning : Sex chromosomes are useful for the study of how factors such as mutation, selection, recombination and effective population size affect diversity and divergence.A comparison of gametologous introns in seven different bird species revealed a complete lack of diversity on the female-specific W chromosome. LÄS MER

  5. 5. Pathogenic Mechanisms of the Arctic Alzheimer Mutation

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Charlotte Sahlin; Uppsala universitet.; [2007]
    Nyckelord :Neurosciences; Alzheimer s disease; Arctic mutation; Amyloid precursor protein; Amyloid-β; APP processing; Aβ oligomers; Docosahexaenoic acid; Neurovetenskap;

    Sammanfattning : Alzheimer’s disease (AD) is a progressive neurodegenerative disorder, neuropathologically characterized by neurofibrillay tangles and deposition of amyloid-β (Aβ) peptides. Several mutations in the gene for amyloid precursor protein (APP) cause familial AD and affect APP processing leading to increased levels of Aβ42. LÄS MER