Search for dissertations about: "mutation analysis in genetic disorder"

Showing result 1 - 5 of 43 swedish dissertations containing the words mutation analysis in genetic disorder.

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

   Author : Anna Sillén; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pediatrics; genetic disease; chromosome; microsatellite; linkage analysis; mutation; Pediatrik; Paediatric medicine; Pediatrisk medicin; klinisk genetik; Clinical Genetics;

   Abstract : 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. READ MORE

4. 2. Molecular genetic studies on cystinuria

   Author : Lotta Harnevik; Peter Söderkvist; Catharina Larsson; Linköpings universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amino acid transport systems; Amino acids diamino; Mutation; Sulphydryl compounds; urine; Cystine; Carrier proteins; Cystinuria; DNA mutational analysis; Dog diseases; genetic; Membrane glycoproteins; Medical genetics; Medicinsk genetik;

   Abstract : Cystinuria is defined as an inherited disorder characterized by increased urinary excretion of cystine and the dibasic amino acids arginine, lysine and ornithine. The only clinical manifestation of cystinuria is renal cystine stone formation due to the low solubility of cystine in the urine. READ MORE

5. 3. Long QT syndrome in Sweden : founder effects and associated cardiac phenotypes

   Author : Annika Winbo; Annika Rydberg; Eric Schulze-Bahr; Umeå universitet; []
   Keywords : 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;

   Abstract : 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. READ MORE

6. 4. Genetic and Clinical Investigation of Noonan Spectrum Disorders

   Author : Sara Ekvall; Marie-Louise Bondeson; Göran Andersson; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RASopathies; Noonan syndrome; neurofibromatosis type 1; neurofibromatosis-Noonan syndrome; RAS-MAPK pathway; mutation; Medical Science; Medicinsk vetenskap;

   Abstract : Noonan spectrum disorders belong to the RASopathies, a group of clinically related developmental disorders caused by dysregulation of the RAS-MAPK pathway. This thesis describes genetic and clinical investigations of six families with Noonan spectrum disorders. READ MORE

7. 5. Exploring the Genetics of SLE with Linkage and Association Analysis

   Author : Cecilia Johansson; Marta Alarcón-Riquelme; Peter Gregersen; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; Systemic lupus erythematosus; complex disease; linkage analysis; association analysis; Genetik; Genetics; Genetik;

   Abstract : The aim with this thesis has been to identify genes involved in the pathogenesis of Systemic Lupus Erythematosus (SLE). SLE is a systemic autoimmune disorder, most likely caused by both several genetic and environmental factors. READ MORE