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3. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Meissner PN; Dailey TA; Hift RJ; Ziman M; Corrigall AV; Roberts AG; Meissner DM; Kirsch RE; Dailey HA Nat Genet; 1996 May; 13(1):95-7. PubMed ID: 8673113 [TBL] [Abstract][Full Text] [Related]
4. A mouse model for South African (R59W) variegate porphyria: construction and initial characterization. Medlock AE; Meissner PN; Davidson BP; Corrigall AV; Dailey HA Cell Mol Biol (Noisy-le-grand); 2002 Feb; 48(1):71-8. PubMed ID: 11929050 [TBL] [Abstract][Full Text] [Related]
5. Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family. Corrigall AV; Hift RJ; Hancock V; Meissner D; Davids L; Kirsch RE; Meissner PN Hum Mutat; 1998; 12(6):403-7. PubMed ID: 9829909 [TBL] [Abstract][Full Text] [Related]
6. Homozygous variegate porphyria in South Africa: genotypic analysis in two cases. Corrigall AV; Hift RJ; Davids LM; Hancock V; Meissner D; Kirsch RE; Meissner PN Mol Genet Metab; 2000 Apr; 69(4):323-30. PubMed ID: 10870850 [TBL] [Abstract][Full Text] [Related]
7. Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry. van Tuyll van Serooskerken AM; Drögemöller BI; Te Velde K; Bladergroen RS; Steijlen PM; Poblete-Gutiérrez P; van Geel M; van Heerden CJ; Warnich L; Frank J Br J Dermatol; 2012 Feb; 166(2):261-5. PubMed ID: 21910705 [TBL] [Abstract][Full Text] [Related]
8. Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria. Corrigall AV; Hift RJ; Davids LM; Hancock V; Meissner D; Kirsch RE; Meissner PN Mol Genet Metab; 2001 May; 73(1):91-6. PubMed ID: 11350188 [TBL] [Abstract][Full Text] [Related]
9. Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation. Whatley SD; Puy H; Morgan RR; Robreau AM; Roberts AG; Nordmann Y; Elder GH; Deybach JC Am J Hum Genet; 1999 Oct; 65(4):984-94. PubMed ID: 10486317 [TBL] [Abstract][Full Text] [Related]
10. Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile. Frank J; Aita VM; Ahmad W; Lam H; Wolff C; Christiano AM Hum Hered; 2001; 51(3):160-8. PubMed ID: 11173967 [TBL] [Abstract][Full Text] [Related]
11. Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria. Warnich L; Kotze MJ; Groenewald IM; Groenewald JZ; van Brakel MG; van Heerden CJ; de Villiers JN; van de Ven WJ; Schoenmakers EF; Taketani S; Retief AE Hum Mol Genet; 1996 Jul; 5(7):981-4. PubMed ID: 8817334 [TBL] [Abstract][Full Text] [Related]
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13. Variegate porphyria in Western Australian Aboriginal patients. Rossi E; Chin CY; Beilby JP; Waso HF; Warnich L Intern Med J; 2002; 32(9-10):445-50. PubMed ID: 12380696 [TBL] [Abstract][Full Text] [Related]
14. Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria. Wiman A; Harper P; Floderus Y Clin Genet; 2003 Aug; 64(2):122-30. PubMed ID: 12859407 [TBL] [Abstract][Full Text] [Related]
15. Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients. von und zu Fraunberg M; Timonen K; Mustajoki P; Kauppinen R Eur J Hum Genet; 2002 Oct; 10(10):649-57. PubMed ID: 12357337 [TBL] [Abstract][Full Text] [Related]
16. Variegate porphyria: past, present and future. Frank J; Christiano AM Skin Pharmacol Appl Skin Physiol; 1998; 11(6):310-20. PubMed ID: 10343202 [TBL] [Abstract][Full Text] [Related]
17. [Neurological, dermatological and biological manifestations of porphyria variegata. A study of 3 families of Italian origin in Marseilles area]. Aquaron R; Lacombe D; Topi GC; Lamoril J Rev Neurol (Paris); 1992; 148(8-9):532-40. PubMed ID: 1494724 [TBL] [Abstract][Full Text] [Related]
18. Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23. Roberts AG; Whatley SD; Daniels J; Holmans P; Fenton I; Owen MJ; Thompson P; Long C; Elder GH Hum Mol Genet; 1995 Dec; 4(12):2387-90. PubMed ID: 8634714 [TBL] [Abstract][Full Text] [Related]
19. A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family. Hift RJ; Meissner D; Meissner PN Br J Dermatol; 2004 Aug; 151(2):465-71. PubMed ID: 15327556 [TBL] [Abstract][Full Text] [Related]
20. Fifty years of porphyria at the University of Cape Town. Meissner PN; Corrigall AV; Hift RJ S Afr Med J; 2012 Mar; 102(6):422-6. PubMed ID: 22668925 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]