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4. C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Frank J; Wang X; Lam HM; Aita VM; Jugert FK; Goerz G; Merk HF; Poh-Fitzpatrick MB; Christiano AM Ann Hum Genet; 1998 May; 62(Pt 3):225-30. PubMed ID: 9803266 [TBL] [Abstract][Full Text] [Related]
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13. Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype. Ged C; Moreau-Gaudry F; Richard E; Robert-Richard E; de Verneuil H Cell Mol Biol (Noisy-le-grand); 2009 Feb; 55(1):53-60. PubMed ID: 19268002 [TBL] [Abstract][Full Text] [Related]
14. Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation. Harada FA; Shwayder TA; Desnick RJ; Lim HW J Am Acad Dermatol; 2001 Aug; 45(2):279-82. PubMed ID: 11464191 [TBL] [Abstract][Full Text] [Related]
15. Congenital erythropoietic porphyria: prenatal diagnosis and autopsy findings in two sibling fetuses. Daïkha-Dahmane F; Dommergues M; Narcy F; Gubler MC; Dumez Y; Gauthier E; Nordmann Y; Nessmann C; Terrasse G; Muller F Pediatr Dev Pathol; 2001; 4(2):180-4. PubMed ID: 11178635 [TBL] [Abstract][Full Text] [Related]
16. Congenital erythropoietic porphyria: a case report. Chiewchanvit S; Mahanupab P; Vanittanakom P J Med Assoc Thai; 1998 Dec; 81(12):1023-7. PubMed ID: 9916395 [TBL] [Abstract][Full Text] [Related]
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19. A knock-in mouse model of congenital erythropoietic porphyria. Ged C; Mendez M; Robert E; Lalanne M; Lamrissi-Garcia I; Costet P; Daniel JY; Dubus P; Mazurier F; Moreau-Gaudry F; de Verneuil H Genomics; 2006 Jan; 87(1):84-92. PubMed ID: 16314073 [TBL] [Abstract][Full Text] [Related]
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