Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria

Human Molecular Genetics

Volumn 5, Issue 3, 1996, Pages 407-410

  Deybach, Jean Charles ^a   Puy, Hervé ^a   Robréau, Anne Marie ^a   Lamoril, Jérôme ^a   Da Silva, Vasco ^a   Grandchamp, Bernard ^b   Nordmann, Yves ^a  

^a HÔPITAL LOUIS MOURIER   (France)

^b INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GLYCINE; GUANINE; PROTOPORPHYRINOGEN OXIDASE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CAUCASIAN; CODING; CONTROLLED STUDY; ENZYME ACTIVITY; EVOLUTION; EXON; FAMILY; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; HEPATIC PORPHYRIA; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MISSENSE MUTATION; POINT MUTATION; PORPHYRIA VARIEGATA; PRIORITY JOURNAL; STOP CODON;

AMINO ACID SEQUENCE; FEMALE; FLAVOPROTEINS; HUMANS; MALE; MITOCHONDRIAL PROTEINS; MUTATION; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PEDIGREE; POLYMORPHISM, GENETIC; PORPHYRIAS, HEPATIC; PROTOPORPHYRINOGEN OXIDASE;

EID: 0030024088     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.3.407     Document Type: Article

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