Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria

Molecular Genetics and Metabolism

Volumn 73, Issue 1, 2001, Pages 91-96

  Corrigall, A V ^a   Hift, R J ^a   Davids, L M ^a   Hancock, V ^a   Meissner, D ^a   Kirsch, R E ^a   Meissner, P N ^a  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

Heme synthesis; Porphyria; Protoporphyrinogen oxidase; Variegate porphyria

Indexed keywords

HEME DERIVATIVE; PROTOPORPHYRINOGEN OXIDASE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; ENZYME ACTIVITY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SUSCEPTIBILITY; HUMAN; MALE; METABOLISM; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PORPHYRIA; PRIORITY JOURNAL; RACE DIFFERENCE;

EID: 0035718572     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3163     Document Type: Article

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