262 related articles for article (PubMed ID: 16026339)
1. Identification of a mutation in the ovine uroporphyrinogen decarboxylase (UROD) gene associated with a type of porphyria.
Nezamzadeh R; Seubert A; Pohlenz J; Brenig B
Anim Genet; 2005 Aug; 36(4):297-302. PubMed ID: 16026339
[TBL] [Abstract][Full Text] [Related]
2. Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT.
Christiansen L; Ged C; Hombrados I; Brons-Poulsen J; Fontanellas A; de Verneuil H; Hørder M; Petersen NE
Hum Mutat; 1999; 14(3):222-32. PubMed ID: 10477430
[TBL] [Abstract][Full Text] [Related]
3. Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT).
Cappellini MD; Martinez di Montemuros F; Tavazzi D; Fargion S; Pizzuti A; Comino A; Cainelli T; Fiorelli G
Hum Mutat; 2001 Apr; 17(4):350. PubMed ID: 11295834
[TBL] [Abstract][Full Text] [Related]
4. Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene.
Méndez M; Poblete-Gutiérrez P; García-Bravo M; Wiederholt T; Morán-Jiménez MJ; Merk HF; Garrido-Astray MC; Frank J; Fontanellas A; Enríquez de Salamanca R
Br J Dermatol; 2007 Sep; 157(3):501-7. PubMed ID: 17627795
[TBL] [Abstract][Full Text] [Related]
5. Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
Weiss Y; Chen B; Yasuda M; Nazarenko I; Anderson KE; Desnick RJ
Mol Genet Metab; 2019 Nov; 128(3):363-366. PubMed ID: 30514647
[TBL] [Abstract][Full Text] [Related]
6. The molecular basis of porphyria cutanea tarda in Chile: identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene.
Poblete-Gutiérrez P; Mendez M; Wiederholt T; Merk HF; Fontanellas A; Wolff C; Frank J
Exp Dermatol; 2004 Jun; 13(6):372-9. PubMed ID: 15186324
[TBL] [Abstract][Full Text] [Related]
7. Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern.
Armstrong DK; Sharpe PC; Chambers CR; Whatley SD; Roberts AG; Elder GH
Br J Dermatol; 2004 Oct; 151(4):920-3. PubMed ID: 15491440
[TBL] [Abstract][Full Text] [Related]
8. Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation.
Gómez-Abecia S; Morán-Jiménez MJ; Ruiz-Casares E; Henriques-Gil N; García-Pastor I; Garrido-Astray MC; Enríquez de Salamanca R; Méndez M
Gene; 2013 Jun; 522(1):89-95. PubMed ID: 23545314
[TBL] [Abstract][Full Text] [Related]
9. Dual porphyria with mutations in both the UROD and HMBS genes.
Harraway JR; Florkowski CM; Sies C; George PM
Ann Clin Biochem; 2006 Jan; 43(Pt 1):80-2. PubMed ID: 16390615
[TBL] [Abstract][Full Text] [Related]
10. Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.
Martinez di Montemuros F; Di Pierro E; Patti E; Tavazzi D; Danielli MG; Biolcati G; Rocchi E; Cappellini MD
Cell Mol Biol (Noisy-le-grand); 2002 Dec; 48(8):867-76. PubMed ID: 12699245
[TBL] [Abstract][Full Text] [Related]
11. Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. Mutation in brief no. 237. Online.
McManus JF; Begley CG; Sassa S; Ratnaike S
Hum Mutat; 1999; 13(5):412. PubMed ID: 10338097
[TBL] [Abstract][Full Text] [Related]
12. A zebrafish model for hepatoerythropoietic porphyria.
Wang H; Long Q; Marty SD; Sassa S; Lin S
Nat Genet; 1998 Nov; 20(3):239-43. PubMed ID: 9806541
[TBL] [Abstract][Full Text] [Related]
13. Childhood-onset mild cutaneous porphyria with compound heterozygotic mutations in the uroporphyrinogen decarboxylase gene.
Remenyik E; Lecha M; Badenas C; Kószó F; Vass V; Herrero C; Varga V; Emri G; Balogh A; Horkay I
Clin Exp Dermatol; 2008 Aug; 33(5):602-5. PubMed ID: 18462440
[TBL] [Abstract][Full Text] [Related]
14. Porphyria cutanea tarda.
Elder GH
Semin Liver Dis; 1998; 18(1):67-75. PubMed ID: 9516680
[TBL] [Abstract][Full Text] [Related]
15. Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutaneous.
Brancaleoni V; Di Pierro E; Besana V; Ausenda S; Cappellini MD
Hum Genet; 2007 Dec; 122(5):554-5. PubMed ID: 18383605
[No Abstract] [Full Text] [Related]
16. Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutaneous.
Brancaleoni V; Di Pierro E; Besana V; Ausenda S; Cappellini MD
Hum Genet; 2007 Dec; 122(5):554. PubMed ID: 18383604
[No Abstract] [Full Text] [Related]
17. Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutaneous.
Brancaleoni V; Dipierro E; Ausenda S; Besana V; Cappellini MD
Hum Genet; 2007 Nov; 122(3-4):415. PubMed ID: 18350650
[No Abstract] [Full Text] [Related]
18. Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.
Badenas C; To-Figueras J; Phillips JD; Warby CA; Muñoz C; Herrero C
Clin Genet; 2009 Apr; 75(4):346-53. PubMed ID: 19419417
[TBL] [Abstract][Full Text] [Related]
19. Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda.
Christiansen L; Bygum A; Jensen A; Brandrup F; Thomsen K; Horder M; Petersen NE
Scand J Clin Lab Invest; 2000 Nov; 60(7):611-5. PubMed ID: 11202053
[TBL] [Abstract][Full Text] [Related]
20. Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.
Moran-Jimenez MJ; Ged C; Romana M; Enriquez De Salamanca R; Taïeb A; Topi G; D'Alessandro L; de Verneuil H
Am J Hum Genet; 1996 Apr; 58(4):712-21. PubMed ID: 8644733
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]