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2. 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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4. Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability. Fortian A; Castaño D; Ortega G; Laín A; Pons M; Millet O Biochemistry; 2009 Jan; 48(2):454-61. PubMed ID: 19099412 [TBL] [Abstract][Full Text] [Related]
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13. Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Boulechfar S; Da Silva V; Deybach JC; Nordmann Y; Grandchamp B; de Verneuil H Hum Genet; 1992 Jan; 88(3):320-4. PubMed ID: 1733834 [TBL] [Abstract][Full Text] [Related]
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