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Keywords: genotype–phenotype relationships
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Articles

Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria

Open Access
Helene J. Bustad, Marta Vorland, Eva Rønneseth, Sverre Sandberg, Aurora Martinez, Karen Toska
Journal: Bioscience Reports
Biosci Rep (2013) 33 (4): e00056.
https://doi.org/10.1042/BSR20130045
Published: 08 August 2013
... using Amicon Ultra 30 kDa cut-off centrifugal filters (Millipore) for further analysis by DSF. acute intermittent porphyria (AIP) genotype–phenotype relationships hydroxymethylbilane synthase ligand–protein interaction porphobilinogen (PBG) deaminase thermal stability The porphyrias...
View articletitled, Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria
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Includes: Supplementary data