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13. ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. To-Figueras J; Ducamp S; Clayton J; Badenas C; Delaby C; Ged C; Lyoumi S; Gouya L; de Verneuil H; Beaumont C; Ferreira GC; Deybach JC; Herrero C; Puy H Blood; 2011 Aug; 118(6):1443-51. PubMed ID: 21653323 [TBL] [Abstract][Full Text] [Related]
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15. Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions. Bishop DF; Johansson A; Phelps R; Shady AA; Ramirez MC; Yasuda M; Caro A; Desnick RJ Am J Hum Genet; 2006 Apr; 78(4):645-58. PubMed ID: 16532394 [TBL] [Abstract][Full Text] [Related]
16. Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene. Xu W; Astrin KH; Desnick RJ Hum Mutat; 1996; 7(3):187-92. PubMed ID: 8829650 [TBL] [Abstract][Full Text] [Related]
18. 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]
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]
20. Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyria. Mazurier F; Moreau-Gaudry F; Salesse S; Barbot C; Ged C; Reiffers J; de Verneuil H J Inherit Metab Dis; 1997 Jun; 20(2):247-57. PubMed ID: 9211197 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]