Browsing Bergen Open Research Archive by Author "Rønneseth, Eva"
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Akutt intermitterende porfyri- kartlegging av funksjonelle og termodynamiske eigenskapar til hydroksymetylbilan syntase og utvalte mutantar
Rønneseth, Eva (Master thesis, 2011-05-16)Acute intermittent porphyria (AIP) is an inherited disorder. The majority of patients diagnosed with AIP have half-normal activity of hydroxymethylbilane synthase (HMBS), the third enzyme in the heme- pathway. Although the ... -
Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria
Bustad, Helene J.; Vorland, Marta; Rønneseth, Eva; Sandberg, Sverre; Martinez, Aurora; Toska, Karen (Peer reviewed; Journal article, 2013-08)The autosomal dominantly inherited disease AIP (acute intermittent porphyria) is caused by mutations in HMBS [hydroxymethylbilane synthase; also known as PBG (porphobilinogen) deaminase], the third enzyme in the haem ...