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2. 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; 62(6):1341-52. PubMed ID: 9585598 [TBL] [Abstract][Full Text] [Related]
3. Erythropoietic protoporphyria: identification of novel mutations in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies. Frank J; Nelson J; Wang X; Yang L; Ahmad W; Lam H; Jugert FK; Kalka K; Poh-Fitzpatrick MB; Goerz G; Merk HF; Christiano AM J Investig Med; 1999 Jul; 47(6):278-84. PubMed ID: 10431482 [TBL] [Abstract][Full Text] [Related]
4. New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care. Schneider-Yin X; Gouya L; Meier-Weinand A; Deybach JC; Minder EI Eur J Pediatr; 2000 Oct; 159(10):719-25. PubMed ID: 11039124 [TBL] [Abstract][Full Text] [Related]
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7. Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation. Gouya L; Puy H; Lamoril J; Da Silva V; Grandchamp B; Nordmann Y; Deybach JC Blood; 1999 Mar; 93(6):2105-10. PubMed ID: 10068685 [TBL] [Abstract][Full Text] [Related]
8. Ferrochelatase activities in patients with erythropoietic protoporphyria and their families. Goerz G; Bunselmeyer S; Bolsen K; Schürer NY Br J Dermatol; 1996 May; 134(5):880-5. PubMed ID: 8736329 [TBL] [Abstract][Full Text] [Related]
9. Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria. Gouya L; Schneider-Yin X; Rüfenacht U; Herrero C; Lecha M; Mascaro JM; Puy H; Deybach JC; Minder EI J Invest Dermatol; 1998 Sep; 111(3):406-9. PubMed ID: 9740232 [TBL] [Abstract][Full Text] [Related]
10. Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. Gouya L; Puy H; Robreau AM; Lyoumi S; Lamoril J; Da Silva V; Grandchamp B; Deybach JC Hum Genet; 2004 Feb; 114(3):256-62. PubMed ID: 14669009 [TBL] [Abstract][Full Text] [Related]
11. 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; 48(2):70-6. PubMed ID: 12601550 [TBL] [Abstract][Full Text] [Related]
12. Haplotype analysis of families with erythropoietic protoporphyria and novel mutations of the ferrochelatase gene. Wang X; Yang L; Kurtz L; Lichtin A; DeLeo VA; Bloomer J; Poh-Fitzpatrick MB J Invest Dermatol; 1999 Jul; 113(1):87-92. PubMed ID: 10417624 [TBL] [Abstract][Full Text] [Related]
13. Erythropoietic protoporphyria: four novel frameshift mutations in the ferrochelatase gene. Wang X; Piomelli S; Peacocke M; Christiano AM; Poh-Fitzpatrick MB J Invest Dermatol; 1997 Nov; 109(5):688-91. PubMed ID: 9347801 [TBL] [Abstract][Full Text] [Related]
14. A novel mutation in the ferrochelatase gene associated with erythropoietic protoporphyria. Imoto S; Tanizawa Y; Sato Y; Kaku K; Oka Y Br J Haematol; 1996 Jul; 94(1):191-7. PubMed ID: 8757534 [TBL] [Abstract][Full Text] [Related]
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17. Clinical implications of the molecular biology of erythropoietic protoporphyria. Todd DJ J Eur Acad Dermatol Venereol; 1998 Nov; 11(3):207-13. PubMed ID: 9883431 [TBL] [Abstract][Full Text] [Related]