179 related articles for article (PubMed ID: 12017191)
1. Single-strand conformational polymorphism and denaturing gradient gel electrophoresis in screening for variegate porphyria: identification of two new mutations.
Donnelly JG; Detombe S; Hindmarsh JT
Ann Clin Lab Sci; 2002; 32(2):107-13. PubMed ID: 12017191
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
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. Variegate porphyria.
Kirsch RE; Meissner PN; Hift RJ
Semin Liver Dis; 1998; 18(1):33-41. PubMed ID: 9516676
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
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. 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. 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]
14. Mutation screening of the entire coding region of the protoporphyrinogen oxidase gene using denaturing gradient gel electrophoresis and denaturing hplc.
Christiansen L; Bygum A; Käehne M; Jensen A; Hørder M; Petersen NE
Clin Chem; 2001 Jun; 47(6):1115-7. PubMed ID: 11375304
[No Abstract] [Full Text] [Related]
15. 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]
16. 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]
17. Gne symbol: PPOX. Disease: variegate porphyria.
Patti E; Di Pierro E; Cappellini MD
Hum Genet; 2004 Jul; 115(2):170. PubMed ID: 15300965
[No Abstract] [Full Text] [Related]
18. 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]
19. Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene.
Puy H; Robréau AM; Rosipal R; Nordmann Y; Deybach JC
Biochem Biophys Res Commun; 1996 Sep; 226(1):226-30. PubMed ID: 8806618
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]