Acute intermittent porphyria - Impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties

FEBS Journal

Volumn 276, Issue 7, 2009, Pages 2106-2115

  Ulbrichova, Dana ^a   Hrdinka, Matous ^a   Saudek, Vladimir ^b   Martasek, Pavel ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b Charles University in Prague and General University Hospital in Prague   (Czech Republic)

Author keywords

Acute intermittent porphyria; Heme; Hydroxymethylbilane synthase; Porphobilinogen deaminase; Porphyria

Indexed keywords

PORPHOBILINOGEN DEAMINASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CZECHOSLOVAKIA; DISEASE COURSE; ENZYME ACTIVITY; ESCHERICHIA COLI; FEMALE; GENE MUTATION; GENETIC COUNSELING; HUMAN; MALE; PORPHYRIA; PRIORITY JOURNAL; STRUCTURE ACTIVITY RELATION;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; ESCHERICHIA COLI; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PORPHYRIA, ACUTE INTERMITTENT; PROTEIN CONFORMATION; STRUCTURE-ACTIVITY RELATIONSHIP;

ESCHERICHIA COLI; PROKARYOTA;

EID: 62149147109     PISSN: 1742464X     EISSN: 17424658     Source Type: Journal    
DOI: 10.1111/j.1742-4658.2009.06946.x     Document Type: Article

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