These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
10. 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]
11. 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]
12. Congenital erythropoietic porphyria: bringing evidence-based practice to a rare disease. Sarkany R Br J Dermatol; 2012 Oct; 167(4):709. PubMed ID: 23013311 [No Abstract] [Full Text] [Related]
13. Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria. Wiederholt T; Poblete-Gutiérrez P; Gardlo K; Goerz G; Bolsen K; Merk HF; Frank J Physiol Res; 2006; 55 Suppl 2():S85-92. PubMed ID: 17298225 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. Two brothers with mild congenital erythropoietic porphyria due to a novel genotype. Berry AA; Desnick RJ; Astrin KH; Shabbeer J; Lucky AW; Lim HW Arch Dermatol; 2005 Dec; 141(12):1575-9. PubMed ID: 16365260 [TBL] [Abstract][Full Text] [Related]