These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
22. Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria. de Villiers JN, Kotze MJ, van Heerden CJ, Sadie A, Gardner HF, Liebenberg J, van Zyl R, du Plessis L, Kimberg M, Frank J, Warnich L. Exp Dermatol; 2005 Jan; 14(1):50-5. PubMed ID: 15660919 [Abstract] [Full Text] [Related]
23. 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 [Abstract] [Full Text] [Related]
24. Characteristics of human protoporphyrinogen oxidase in controls and variegate porphyrias. Dailey HA, Dailey TA. Cell Mol Biol (Noisy-le-grand); 1997 Feb; 43(1):67-73. PubMed ID: 9074790 [Abstract] [Full Text] [Related]
26. 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 [Abstract] [Full Text] [Related]
27. 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 [Abstract] [Full Text] [Related]
28. Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity. Weinlich G, Doss MO, Sepp N, Fritsch P. Acta Derm Venereol; 2001 Aug; 81(5):356-9. PubMed ID: 11800145 [Abstract] [Full Text] [Related]
29. 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 Aug; 32(2):107-13. PubMed ID: 12017191 [Abstract] [Full Text] [Related]
30. 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 04; 226(1):226-30. PubMed ID: 8806618 [Abstract] [Full Text] [Related]
31. 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 04; 5(7):981-4. PubMed ID: 8817334 [Abstract] [Full Text] [Related]
32. Gne symbol: PPOX. Disease: variegate porphyria. Patti E, Di Pierro E, Cappellini MD. Hum Genet; 2004 Jul 04; 115(2):170. PubMed ID: 15300965 [No Abstract] [Full Text] [Related]
34. [Identification of mutations in the protoporphyrin oxidase gene and its diagnostic implications in porphyria variegata in Chile]. Wolff C, Frank J, Poblete-Gutiérrez P. Rev Invest Clin; 2006 Jul 04; 58(4):289-95. PubMed ID: 17146940 [Abstract] [Full Text] [Related]
35. 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 04; 48(1):71-8. PubMed ID: 11929050 [Abstract] [Full Text] [Related]
40. [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 Feb 04; 148(8-9):532-40. PubMed ID: 1494724 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]