De novo mutation found in the porphobilinogen deaminase gene in Slovak acute intermittent porphyria patient: Molecular biochemical study

Physiological Research

Volumn 55, Issue SUPPL. 2, 2006, Pages

  Ulbrichova, D ^a   Flachsova, E ^a   Hrdinka, M ^a   Saligova, J ^b   Bazar, J ^b   Raman, C S ^c   Martasek, Pavel ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b FACULTY HOSPITAL   (Slovakia)

^c UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

Author keywords

Acute intermittent porphyria; Heme; Porphobilinogen deaminase; Porphyria

Indexed keywords

PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ADOLESCENT; ARTICLE; CASE REPORT; CAUCASIAN; CHEMICAL STRUCTURE; CHEMISTRY; ENZYMOLOGY; ESCHERICHIA COLI; GENETICS; HUMAN; ISOLATION AND PURIFICATION; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE;

ADOLESCENT; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; ESCHERICHIA COLI; EUROPEAN CONTINENTAL ANCESTRY GROUP; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PORPHYRIA, ACUTE INTERMITTENT;

EID: 33847164972     PISSN: 08628408     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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