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10. Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families. Norris PG, Nunn AV, Hawk JL, Cox TM. J Invest Dermatol; 1990 Sep; 95(3):260-3. PubMed ID: 2384686 [Abstract] [Full Text] [Related]
11. Hypermethylation of the wild-type ferrochelatase allele is closely associated with severe liver complication in a family with erythropoietic protoporphyria. Onaga Y, Ido A, Uto H, Hasuike S, Kusumoto K, Moriuchi A, Numata M, Nagata K, Hori T, Hayashi K, Tsubouchi H. Biochem Biophys Res Commun; 2004 Sep 03; 321(4):851-8. PubMed ID: 15358105 [Abstract] [Full Text] [Related]
12. Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease. Herrero C, To-Figueras J, Badenas C, Méndez M, Serrano P, Enríquez-Salamanca R, Lecha M. Arch Dermatol; 2007 Sep 03; 143(9):1125-9. PubMed ID: 17875872 [Abstract] [Full Text] [Related]
13. [Homozygote erythropoietic protoporphyria associated with porokeratosis]. Philippot V, Bérard F, Perrot H. Ann Dermatol Venereol; 1996 Sep 03; 123(6-7):382-6. PubMed ID: 8959061 [Abstract] [Full Text] [Related]
14. Ferrochelatase gene mutations in erythropoietic protoporphyria: focus on liver disease. Chen FP, Risheg H, Liu Y, Bloomer J. Cell Mol Biol (Noisy-le-grand); 2002 Feb 03; 48(1):83-9. PubMed ID: 11929052 [Abstract] [Full Text] [Related]
15. Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria. Wiman A, Floderus Y, Harper P. J Hum Genet; 2003 Feb 03; 48(2):70-6. PubMed ID: 12601550 [Abstract] [Full Text] [Related]
18. A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria. Minder EI, Gouya L, Schneider-Yin X, Deybach JC. Cell Mol Biol (Noisy-le-grand); 2002 Feb 03; 48(1):91-6. PubMed ID: 11929053 [Abstract] [Full Text] [Related]
19. Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria. Rüfenacht UB, Gouya L, Schneider-Yin X, Puy H, Schäfer BW, Aquaron R, Nordmann Y, Minder EI, Deybach JC. Am J Hum Genet; 1998 Jun 03; 62(6):1341-52. PubMed ID: 9585598 [Abstract] [Full Text] [Related]