A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria

Nature Genetics

Volumn 13, Issue 1, 1996, Pages 95-97

  Meissner, Peter N ^a,b   Dailey, Tamara A ^b   Hift, Richard J ^a   Ziman, Mel ^a   Corrigall, Anne V ^a   Roberts, Andrew G ^c   Meissner, Doreen M ^a   Kirsch, Ralph E ^a   Dailey, Harry A ^b  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

^b UNIVERSITY OF GEORGIA   (United States)

^c CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FLAVOPROTEIN; MITOCHONDRIAL PROTEIN; OXIDOREDUCTASE; PPOX PROTEIN, HUMAN; PPOX PROTEIN, MOUSE; PRIMER DNA; PROTOPORPHYRINOGEN OXIDASE; RECOMBINANT PROTEIN;

AMINO ACID SEQUENCE; ANIMAL; ARTICLE; BACILLUS SUBTILIS; BLOOD; ENZYMOLOGY; ETHNOLOGY; FEMALE; GENETICS; HEPATIC PORPHYRIA; HUMAN; ISOLATION AND PURIFICATION; LIVER; MALE; METABOLISM; MOLECULAR CLONING; MOLECULAR GENETICS; MOUSE; MYXOCOCCUS XANTHUS; NETHERLANDS; NUCLEOTIDE SEQUENCE; PEDIGREE; PLACENTA; POINT MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY; PREVALENCE; RESTRICTION MAPPING; SOUTH AFRICA;

AMINO ACID SEQUENCE; ANIMALS; BACILLUS SUBTILIS; BASE SEQUENCE; CLONING, MOLECULAR; DNA; DNA PRIMERS; FEMALE; FLAVOPROTEINS; HUMANS; LIVER; MALE; MICE; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MYXOCOCCUS XANTHUS; NETHERLANDS; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PEDIGREE; PLACENTA; POINT MUTATION; POLYMERASE CHAIN REACTION; PORPHYRIAS, HEPATIC; PREGNANCY; PREVALENCE; PROTOPORPHYRINOGEN OXIDASE; RECOMBINANT PROTEINS; RESTRICTION MAPPING; SOUTH AFRICA;

EID: 0030140415     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0596-95     Document Type: Article

References (19)

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