123 related articles for article (PubMed ID: 7654562)
1. Human protoporphyria: genetic heterogeneity at the ferrochelatase locus.
Ostasiewicz LT; Huang JL; Wang X; Piomelli S; Poh-Fitzpatrick MB
Photodermatol Photoimmunol Photomed; 1995 Feb; 11(1):18-21. PubMed ID: 7654562
[TBL] [Abstract][Full Text] [Related]
2. Molecular genetics of erythropoietic protoporphyria.
Todd DJ
Photodermatol Photoimmunol Photomed; 1998 Apr; 14(2):70-3. PubMed ID: 9638728
[TBL] [Abstract][Full Text] [Related]
3. Erythropoietic protoporphyria: identification of novel mutations in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies.
Frank J; Nelson J; Wang X; Yang L; Ahmad W; Lam H; Jugert FK; Kalka K; Poh-Fitzpatrick MB; Goerz G; Merk HF; Christiano AM
J Investig Med; 1999 Jul; 47(6):278-84. PubMed ID: 10431482
[TBL] [Abstract][Full Text] [Related]
4. Haplotype analysis of families with erythropoietic protoporphyria and novel mutations of the ferrochelatase gene.
Wang X; Yang L; Kurtz L; Lichtin A; DeLeo VA; Bloomer J; Poh-Fitzpatrick MB
J Invest Dermatol; 1999 Jul; 113(1):87-92. PubMed ID: 10417624
[TBL] [Abstract][Full Text] [Related]
5. Ferrochelatase gene polymorphism analysis for accurate genetic counselling in erythropoietic protoporphyria.
Morris SD; Mason NG; Elder GH; Hawk JL; Sarkany RP
Br J Dermatol; 2002 Sep; 147(3):572-4. PubMed ID: 12207604
[TBL] [Abstract][Full Text] [Related]
6. Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.
Rüfenacht UB; Gouya L; Schneider-Yin X; Puy H; Schäfer BW; Aquaron R; Nordmann Y; Minder EI; Deybach JC
Am J Hum Genet; 1998 Jun; 62(6):1341-52. PubMed ID: 9585598
[TBL] [Abstract][Full Text] [Related]
7. Hypermethylation of the wild-type ferrochelatase allele is closely associated with severe liver complication in a family with erythropoietic protoporphyria.
Onaga Y; Ido A; Uto H; Hasuike S; Kusumoto K; Moriuchi A; Numata M; Nagata K; Hori T; Hayashi K; Tsubouchi H
Biochem Biophys Res Commun; 2004 Sep; 321(4):851-8. PubMed ID: 15358105
[TBL] [Abstract][Full Text] [Related]
8. A novel mutation in the ferrochelatase gene associated with erythropoietic protoporphyria.
Imoto S; Tanizawa Y; Sato Y; Kaku K; Oka Y
Br J Haematol; 1996 Jul; 94(1):191-7. PubMed ID: 8757534
[TBL] [Abstract][Full Text] [Related]
9. The ferrochelatase gene structure and molecular defects associated with erythropoietic protoporphyria.
Taketani S; Fujita H
J Bioenerg Biomembr; 1995 Apr; 27(2):231-8. PubMed ID: 7592570
[TBL] [Abstract][Full Text] [Related]
10. Clinical implications of the molecular biology of erythropoietic protoporphyria.
Todd DJ
J Eur Acad Dermatol Venereol; 1998 Nov; 11(3):207-13. PubMed ID: 9883431
[TBL] [Abstract][Full Text] [Related]
11. Molecular defect in human erythropoietic protoporphyria with fatal liver failure.
Nakahashi Y; Miyazaki H; Kadota Y; Naitoh Y; Inoue K; Yamamoto M; Hayashi N; Taketani S
Hum Genet; 1993 May; 91(4):303-6. PubMed ID: 8500787
[TBL] [Abstract][Full Text] [Related]
12. A new ferrochelatase mutation combined with low expression alleles in a Japanese patient with erythropoietic protoporphyria.
Yasui Y; Muranaka S; Tahara T; Shimizu R; Watanabe S; Horie Y; Nanba E; Uezato H; Takamiyagi A; Taketani S; Akagi R
Clin Sci (Lond); 2002 May; 102(5):501-6. PubMed ID: 11980567
[TBL] [Abstract][Full Text] [Related]
13. Autosomal recessive erythropoietic protoporphyria: a syndrome of severe photosensitivity and liver failure.
Sarkany RP; Cox TM
QJM; 1995 Aug; 88(8):541-9. PubMed ID: 7648240
[TBL] [Abstract][Full Text] [Related]
14. A novel ferrochelatase gene mutation (IVS1-2 A-->C) in erythropoietic protoporphyria.
Lew W
J Invest Dermatol; 2003 Aug; 121(2):425-7. PubMed ID: 12880438
[No Abstract] [Full Text] [Related]
15. Erythropoietic protoporphyria (EPP) at 40. Where are we now?
Sarkany RP
Photodermatol Photoimmunol Photomed; 2002 Jun; 18(3):147-52. PubMed ID: 12207680
[TBL] [Abstract][Full Text] [Related]
16. Human erythropoietic protoporphyria: identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene.
Nakahashi Y; Miyazaki H; Kadota Y; Naitoh Y; Inoue K; Yamamoto M; Hayashi N; Taketani S
Hum Mol Genet; 1993 Jul; 2(7):1069-70. PubMed ID: 8364548
[No Abstract] [Full Text] [Related]
17. Human ferrochelatase: a novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing.
Schneider-Yin X; Schäfer BW; Tönz O; Minder EI
Hum Genet; 1995 Apr; 95(4):391-6. PubMed ID: 7705834
[TBL] [Abstract][Full Text] [Related]
18. Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.
Gouya L; Puy H; Lamoril J; Da Silva V; Grandchamp B; Nordmann Y; Deybach JC
Blood; 1999 Mar; 93(6):2105-10. PubMed ID: 10068685
[TBL] [Abstract][Full Text] [Related]
19. A novel A(-4)-to-G acceptor splice site mutation leads to three bases insertion in ferrochelatase mRNA in a patient with erythropoietic protoporphyria.
Yotsumoto S; Shimada S; Terasaki K; Taketani S; Kobayashi K; Saheki T; Kanzaki T
J Invest Dermatol; 2001 Jul; 117(1):159-61. PubMed ID: 11442767
[No Abstract] [Full Text] [Related]
20. Amelioration of the metabolic defect in erythropoietic protoporphyria by expression of human ferrochelatase in cultured cells.
Mathews-Roth MM; Michel JL; Wise RJ
J Invest Dermatol; 1995 Apr; 104(4):497-9. PubMed ID: 7706765
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]