Blar i Department of Clinical Science på emneord "VDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710::Medical genetics: 714"
Viser treff 1-4 av 4
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Autoimmune polyendocrine syndrome type I. Novel diagnostic assays and immune regulation
(Doctoral thesis, 2012-02-10)Autoimmune polyendocrine syndrome type I (APS-I) is a rare, monogenetic recessively inherited disease caused by mutations in the autoimmune regulator (AIRE) gene. The patients display different endocrine and ectodermal ... -
emm gene diversity, superantigen gene profiles and presence of SlaA among clinical isolates of group A, C and G streptococci from western Norway
(Peer reviewed; Journal article, 2010-11-20)In order to investigate molecular characteristics of beta-hemolytic streptococcal isolates from western Norway, we analysed the entire emm gene sequences, obtained superantigen gene profiles and determined the prevalence ... -
Genome-wide copy number variation (CNV) in patients with autoimmune Addison’s disease
(Peer reviewed; Journal article, 2011-08-18)Background: Addison’s disease (AD) is caused by an autoimmune destruction of the adrenal cortex. The pathogenesis is multi-factorial, involving genetic components and hitherto unknown environmental factors. The aim of the ... -
Highly conserved serine residue 40 in HIV-1 p6 regulates capsid processing and virus core assembly
(Peer reviewed; Journal article, 2011-02-16)Background: The HIV-1 p6 Gag protein regulates the final abscission step of nascent virions from the cell membrane by the action of two late assembly (L-) domains. Although p6 is located within one of the most polymorphic ...