197 related articles for article (PubMed ID: 23545314)
1. 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]
2. 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]
3. Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations.
Méndez M; Rossetti MV; Gómez-Abecia S; Morán-Jiménez MJ; Parera V; Batlle A; Enríquez de Salamanca R
Mol Genet Metab; 2012 Apr; 105(4):629-33. PubMed ID: 22382040
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients.
Roberts AG; Elder GH; De Salamanca RE; Herrero C; Lecha M; Mascaro JM
J Invest Dermatol; 1995 Apr; 104(4):500-2. PubMed ID: 7706766
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria.
Mendez M; Rossetti MV; De Siervi A; del Carmen Batlle AM; Parera V
Hum Mutat; 2000 Sep; 16(3):269-70. PubMed ID: 10980536
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Hepatoerythropoietic porphyria and familial porphyria cutanea tarda in Spanish patients: G281E mutation in the uroporphyrinogen decarboxylase gene.
Darwich E; To-Figueras J; Badenas C; Herrero C
Arch Dermatol; 2010 Nov; 146(11):1313-4. PubMed ID: 21079081
[No Abstract] [Full Text] [Related]
12. Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.
Mendez M; Sorkin L; Rossetti MV; Astrin KH; del C Batlle AM; Parera VE; Aizencang G; Desnick RJ
Am J Hum Genet; 1998 Nov; 63(5):1363-75. PubMed ID: 9792863
[TBL] [Abstract][Full Text] [Related]
13. Porphyria cutanea tarda--when skin meets liver.
Frank J; Poblete-Gutiérrez P
Best Pract Res Clin Gastroenterol; 2010 Oct; 24(5):735-45. PubMed ID: 20955974
[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. 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]
16. 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]
17. Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda.
Brady JJ; Jackson HA; Roberts AG; Morgan RR; Whatley SD; Rowlands GL; Darby C; Shudell E; Watson R; Paiker J; Worwood MW; Elder GH
J Invest Dermatol; 2000 Nov; 115(5):868-74. PubMed ID: 11069625
[TBL] [Abstract][Full Text] [Related]
18. Precipitating/aggravating factors of porphyria cutanea tarda in Spanish patients.
Cruz-Rojo J; Fontanellas A; Morán-Jiménez MJ; Navarro-Ordóñez S; García-Bravo M; Méndez M; Muñoz-Rivero MC; de Salamanca RE
Cell Mol Biol (Noisy-le-grand); 2002 Dec; 48(8):845-52. PubMed ID: 12699242
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]