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Proteins: Structure, Function, and Bioinformatics, ISSN 0887-3585, 05/2008, Volume 71, Issue 2, pp. 855 - 873
Journal Article
Journal Article
Journal Article
Forensic Science International: Genetics, ISSN 1872-4973, 2010, Volume 5, Issue 1, pp. 21 - 26
Journal Article
Journal Article
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 03/2018, pp. 1 - 9
Acute intermittent porphyria (AIP), an autosomal dominant disorder due to the half-normal activity of hydroxymethylbilane synthase (HMBS), is characterized by... 
Porphyria | Transcription | Insertion | Gene deletion | Hereditary diseases | Hydroxymethylbilane synthase | Missense mutation | Genetic counseling | Clonal deletion | Protein folding | Heme | Mutation | Gene mapping | Dimerization | Crystal structure
Journal Article