228 related articles for article (PubMed ID: 9738863)
1. 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]
2. 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]
3. 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]
4. The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
Frank J; Poh-Fitzpatrick MB; King LE; Christiano AM
Arch Dermatol Res; 1998 Aug; 290(8):441-5. PubMed ID: 9763307
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
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. Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria.
De Siervi A; Parera VE; del C Batlle AM; Rossetti MV
Hum Mutat; 2000 Dec; 16(6):532. PubMed ID: 11102990
[No Abstract] [Full Text] [Related]
10. Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria.
Frank J; McGrath JA; Poh-Fitzpatrick MB; Hawk JL; Christiano AM
Clin Exp Dermatol; 1999 Jul; 24(4):296-301. PubMed ID: 10457135
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Variegate porphyria.
Kirsch RE; Meissner PN; Hift RJ
Semin Liver Dis; 1998; 18(1):33-41. PubMed ID: 9516676
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.
Martinez di Montemuros F; Di Pierro E; Patti E; Tavazzi D; Danielli MG; Biolcati G; Rocchi E; Cappellini MD
Cell Mol Biol (Noisy-le-grand); 2002 Dec; 48(8):867-76. PubMed ID: 12699245
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria.
Siervi AD; Parera VE; Varela LS; Batlle AM; Rossetti MV
Hum Mutat; 2000 Jul; 16(1):96. PubMed ID: 10874330
[No Abstract] [Full Text] [Related]
19. 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]
20. Haplotype analysis excludes the functional protoporphyrinogen oxidase promoter polymorphism -1081G>A as a modifying factor in the clinical expression of variegate porphyria.
Warnich L; Kimberg M; Kotze MJ; Ohashi T; Taketani S; Louw BJ
Cell Mol Biol (Noisy-le-grand); 2002 Feb; 48(1):57-60. PubMed ID: 11930946
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
