174 related articles for article (PubMed ID: 8151124)
1. Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria.
Sarkany RP; Whitcombe DM; Cox TM
J Invest Dermatol; 1994 Apr; 102(4):481-4. PubMed ID: 8151124
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. Examination of ferrochelatase mutations that cause erythropoietic protoporphyria.
Sellers VM; Dailey TA; Dailey HA
Blood; 1998 May; 91(10):3980-5. PubMed ID: 9573038
[TBL] [Abstract][Full Text] [Related]
7. A novel splicing mutation in the ferrochelatase gene responsible for erythropoietic protoporphyria.
Wang X; Poh-Fitzpatrick M; Piomelli S
Biochim Biophys Acta; 1994 Oct; 1227(1-2):25-7. PubMed ID: 7918679
[TBL] [Abstract][Full Text] [Related]
8. A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing.
Wang X; Poh-Fitzpatrick M; Carriero D; Ostasiewicz L; Chen T; Taketani S; Piomelli S
Biochim Biophys Acta; 1993 Apr; 1181(2):198-200. PubMed ID: 8481408
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Molecular characterization of a novel defect occurring de novo associated with erythropoietic protoporphyria.
Wang X
Biochim Biophys Acta; 1996 Aug; 1316(3):149-52. PubMed ID: 8781532
[TBL] [Abstract][Full Text] [Related]
11. Erythropoietic protoporphyria: four novel frameshift mutations in the ferrochelatase gene.
Wang X; Piomelli S; Peacocke M; Christiano AM; Poh-Fitzpatrick MB
J Invest Dermatol; 1997 Nov; 109(5):688-91. PubMed ID: 9347801
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Systematic screening for RNA with skipped exons--splicing mutations of the ferrochelatase gene.
Wang X; Poh-Fitzpatrick M; Chen T; Malavade K; Carriero D; Piomelli S
Biochim Biophys Acta; 1995 Jun; 1271(2-3):358-62. PubMed ID: 7541650
[TBL] [Abstract][Full Text] [Related]
14. Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.
Gouya L; Deybach JC; Lamoril J; Da Silva V; Beaumont C; Grandchamp B; Nordmann Y
Am J Hum Genet; 1996 Feb; 58(2):292-9. PubMed ID: 8571955
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Erythropoietic protoporphyria: a new mutation responsible for exon skipping in the human ferrochelatase gene.
Remenyik E; Lanyon GW; Horkay I; Paragh G; Wikonkál N; Kósa A; Moore MR
J Invest Dermatol; 1998 Sep; 111(3):540-1. PubMed ID: 9740256
[No Abstract] [Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
