Sökning: "population-specific genetic variations"

Hittade 2 avhandlingar innehållade orden population-specific genetic variations.

1. 1. On the aetiology of ALS : a comprehensive genetic study

   Författare :Caroline Ingre; Peter M Andersen; Rayomand Press; Siddharthan Chandran; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ALS; risk factor; VAPB; SOD1; amyotrophic lateral sclerosis; ATXN2; SMN1; SMN2; PFN1; 50 bp deletion in SOD1 promotor; population-specific genetic variations; Neurology; neurologi;

   Sammanfattning : Introduction: Amyotrophic lateral sclerosis (ALS) is a deadly, progressive neuromuscular disease that affects individuals all over the world. About 10% of the patients have a familial predisposition (FALS) while the remainder of cases are isolated or sporadic (SALS) and of unknown cause. LÄS MER

3. 2. Assessing the importance of rare genetic variants for drug response

   Författare :Yitian Zhou; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Inter-individual variability in drug response is commonly observed in pharmacological treatment, resulting in 40-70% of patients suffering from low drug efficacy or adverse drug reactions. These negative therapeutic effects significantly contribute to patient morbidity and mortality and constitute an important reason of post-market drug withdrawal. LÄS MER