Demystification of Chester porphyria: A nonsense mutation in the porphobilinogen deaminase gene

Physiological Research

Volumn 55, Issue SUPPL. 2, 2006, Pages

  Poblete Gutierrez P ^a   Wiederholt, T ^b   Martinez Mir, A ^c   Merk, H F ^b   Connor, J M ^d   Christiano, A M ^c   Frank, Jorge ^a,b  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^c Och Spine at New York Presbyterian Hospitals   (United States)

^d UNIVERSITY OF GLASGOW   (United Kingdom)

Author keywords

Chester porphyria; Porphobilinogen deaminase; Porphyria; Protoporphyrinogen oxidase

Indexed keywords

FERREDOXIN; FLAVOPROTEIN; MITOCHONDRIAL PROTEIN; PORPHOBILINOGEN DEAMINASE; PPOX PROTEIN, HUMAN; PROTOPORPHYRINOGEN OXIDASE; SDHD PROTEIN, HUMAN; SUCCINATE DEHYDROGENASE; UNCLASSIFIED DRUG;

ACUTE INTERMITTENT PORPHYRIA; ARTICLE; CLASSIFICATION; GENETICS; HUMAN; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; STOP CODON;

BASE SEQUENCE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FERREDOXINS; FLAVOPROTEINS; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; PORPHYRIA, ACUTE INTERMITTENT; PROTOPORPHYRINOGEN OXIDASE; SUCCINATE DEHYDROGENASE;

EID: 33746638362     PISSN: 08628408     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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