188 related articles for article (PubMed ID: 8852667)
1. Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.
Deybach JC; Puy H; Robréau AM; Lamoril J; Da Silva V; Grandchamp B; Nordmann Y
Hum Mol Genet; 1996 Mar; 5(3):407-10. PubMed ID: 8852667
[TBL] [Abstract][Full Text] [Related]
2. Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients.
von und zu Fraunberg M; Tenhunen R; Kauppinen R
Mol Med; 2001 May; 7(5):320-8. PubMed ID: 11474578
[TBL] [Abstract][Full Text] [Related]
3. Functional studies of mutations in the human protoporphyrinogen oxidase gene in variegate porphyria.
Morgan RR; da SV; Puy H; Deybach JC; Elder GH
Cell Mol Biol (Noisy-le-grand); 2002 Feb; 48(1):79-82. PubMed ID: 11929051
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene.
D'Amato M; Bonuglia M; Barile S; Griso D; Macri A; Biolcati G
Hum Mutat; 2003 Apr; 21(4):448. PubMed ID: 12655566
[TBL] [Abstract][Full Text] [Related]
6. Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria.
Frank J; Jugert FK; Breitkopf C; Goerz G; Merk HF; Christiano AM
Am J Med Genet; 1998 Aug; 79(1):22-6. PubMed ID: 9738863
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene.
Lam H; Dragan L; Tsou HC; Merk H; Peacocke M; Goerz G; Sassa S; Poh-Fitzpatrick M; Bickers DR; Christiano AM
Hum Genet; 1997 Jan; 99(1):126-9. PubMed ID: 9003509
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
Frank J; Lam H; Zaider E; Poh-Fitzpatrick M; Christiano AM
J Med Genet; 1998 Mar; 35(3):244-7. PubMed ID: 9541112
[TBL] [Abstract][Full Text] [Related]
14. Variegate porphyria.
Kirsch RE; Meissner PN; Hift RJ
Semin Liver Dis; 1998; 18(1):33-41. PubMed ID: 9516676
[TBL] [Abstract][Full Text] [Related]
15. Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene.
Frank J; Jugert FK; Kalka K; Goerz G; Merk HF; Christiano AM
J Invest Dermatol; 1998 Apr; 110(4):449-51. PubMed ID: 9540990
[TBL] [Abstract][Full Text] [Related]
16. Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene.
Palmer RA; Elder GH; Barrett DF; Keohane SG
Br J Dermatol; 2001 Apr; 144(4):866-9. PubMed ID: 11298551
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria.
Maeda N; Horie Y; Sasaki Y; Adachi K; Nanba E; Nishida K; Saigo R; Nakagawa M; Kawasaki H; Kudo Y; Kondo M
Clin Biochem; 2000 Aug; 33(6):495-500. PubMed ID: 11074242
[No Abstract] [Full Text] [Related]
19. 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]
20. Molecular characterization of homozygous variegate porphyria.
Roberts AG; Puy H; Dailey TA; Morgan RR; Whatley SD; Dailey HA; Martasek P; Nordmann Y; Deybach JC; Elder GH
Hum Mol Genet; 1998 Nov; 7(12):1921-5. PubMed ID: 9811936
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
