Sökning: "mutation"

Visar resultat 1 - 5 av 1258 avhandlingar innehållade ordet mutation.

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

   Författare :Anna Sillén; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pediatrics; genetic disease; chromosome; microsatellite; linkage analysis; mutation; Pediatrik; Paediatric medicine; 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

3. 2. 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. 3. Bioinformatic Analysis of Mutation and Selection in the Vertebrate Non-coding Genome

   Författare :Mikael Brandström; Hans Ellegren; Diethard Tautz; Uppsala universitet; []
   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

5. 4. Genotyping and Mutation Detection In Situ : Development and application of single-molecule techniques

   Författare :Ida Grundberg; Mats Nilsson; Ulf Landegren; Olli-Pekka Kallioniemi; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; padlock probes; in situ; rolling circle amplification; mRNA; genotyping; mutation detection; cancer; tissue sections; diagnostics; single-molecule; single-cell; microscopy; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Molekylär medicin; Molecular Medicine;

   Sammanfattning : The human body is composed of trillions of cells closely working together to maintain a functional organism. Every cell is unique in molecular composition and can acquire genetic variations that might cause it to turn pathological. LÄS MER

7. 5. Mutation and Diversity in Avian Sex Chromosomes

   Författare :Hannah Sundström; Hans Ellegren; David W. Burt; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; mutation rate; diversity; sex chromosomes; indels; male bias; selective sweep; effective population size; birds; Genetik; Clinical genetics; 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