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A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria.
Meissner, P N; Dailey, T A; Hift, R J; Ziman, M; Corrigall, A V; Roberts, A G; Meissner, D M; Kirsch, R E; Dailey, H A.
Affiliation
  • Meissner PN; Lennox Eales Porphyria Laboratories, MRC/UCT Liver Research Centre, University of Cape Town Dept. of Medicine, South Africa.
Nat Genet ; 13(1): 95-7, 1996 May.
Article in En | MEDLINE | ID: mdl-8673113
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Collection: 01-internacional Database: MEDLINE Main subject: Oxidoreductases / Porphyrias, Hepatic / Point Mutation / Oxidoreductases Acting on CH-CH Group Donors Type of study: Prevalence_studies / Risk_factors_studies Limits: Animals / Female / Humans / Male / Pregnancy Country/Region as subject: Africa / Europa Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 1996 Document type: Article Affiliation country: Sudáfrica
Search on Google
Add to My VHL
Print
XML
PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Oxidoreductases / Porphyrias, Hepatic / Point Mutation / Oxidoreductases Acting on CH-CH Group Donors Type of study: Prevalence_studies / Risk_factors_studies Limits: Animals / Female / Humans / Male / Pregnancy Country/Region as subject: Africa / Europa Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 1996 Document type: Article Affiliation country: Sudáfrica