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5. Compound heterozygosity for a premature termination codon and missense mutation in the exon 10 of the uroporphyrinogen III cosynthase gene causes a severe phenotype of congenital erythropoietic porphyria. Kang TW; Oh SW; Kim MR; Lee JS; Kim SC J Eur Acad Dermatol Venereol; 2009 Apr; 23(4):470-1. PubMed ID: 18647208 [No Abstract] [Full Text] [Related]
7. 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]
8. Identification of two new mutations in congenital erythropoietic porphyria. Bensidhoum M; Ged C; Hombrados I; Moreau-Gaudry F; Hift RS; Meissner P; Sturrock ED; de Verneuil H Eur J Hum Genet; 1995; 3(2):102-7. PubMed ID: 7552139 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. Late onset erythropoietic porphyria (Gunther's disease). Rao SU; Dar NR; Abbas M; Mumtaz J J Coll Physicians Surg Pak; 2011 Sep; 21(9):564-6. PubMed ID: 21914417 [TBL] [Abstract][Full Text] [Related]
11. Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family. Takamura N; Hombrados I; Tanigawa K; Namba H; Nagayama Y; de Verneuil H; Yamashita S Am J Med Genet; 1997 Jun; 70(3):299-302. PubMed ID: 9188670 [TBL] [Abstract][Full Text] [Related]
13. Modeling of congenital erythropoietic porphyria by RNA interference: a new tool for preclinical gene therapy evaluation. Robert-Richard E; Lalanne M; Lamrissi-Garcia I; Guyonnet-Duperat V; Richard E; Pitard V; Mazurier F; Moreau-Gaudry F; Ged C; de Verneuil H J Gene Med; 2010 Aug; 12(8):637-46. PubMed ID: 20586119 [TBL] [Abstract][Full Text] [Related]
14. A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Fontanellas A; Bensidhoum M; Enriquez de Salamanca R; Moruno Tirado A; de Verneuil H; Ged C Eur J Hum Genet; 1996; 4(5):274-82. PubMed ID: 8946173 [TBL] [Abstract][Full Text] [Related]
15. Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene. Shady AA; Colby BR; Cunha LF; Astrin KH; Bishop DF; Desnick RJ Br J Haematol; 2002 Jun; 117(4):980-7. PubMed ID: 12060141 [TBL] [Abstract][Full Text] [Related]
16. Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene. Xu W; Warner CA; Desnick RJ J Clin Invest; 1995 Feb; 95(2):905-12. PubMed ID: 7860775 [TBL] [Abstract][Full Text] [Related]
17. Prenatal diagnosis in congenital erythropoietic porphyria by metabolic measurement and DNA mutation analysis. Ged C; Moreau-Gaudry F; Taine L; Hombrados I; Calvas P; Colombies P; De Verneuil H Prenat Diagn; 1996 Jan; 16(1):83-6. PubMed ID: 8821859 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. The prenatal presentation of congenital erythropoietic porphyria: report of two siblings with elevated maternal serum alpha-fetoprotein. Lazebnik N; Lazebnik RS Prenat Diagn; 2004 Apr; 24(4):282-6. PubMed ID: 15065102 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]