Sökning: "NPC1"

Hittade 1 avhandling innehållade ordet NPC1.

1. 1. Genetic and Genomic Analysis of DNA Sequence Variation

   Författare :Per Erik Lundmark; Ann-Christine Syvänen; Karl Michaelsson; Gert-Jan B. van Ommen; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; SNP; NPC1; association study; allele specific expression; tagSNP; non-coding RNA; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Molekylär medicin; Molecular Medicine;

   Sammanfattning : The studies in this thesis describe the application of genotyping and allele specific expression analysis to genetic studies. The role of the gene NPC1 in Triglyceride metabolism was explored in mouse models and in humans on the population level in study I. LÄS MER