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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

134 related articles for article (PubMed ID: 8481408)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Screening for ferrochelatase mutations: molecular heterogeneity of erythropoietic protoporphyria.
    Wang X; Poh-Fitzpatrick M; Taketani S; Chen T; Piomelli S
    Biochim Biophys Acta; 1994 Jan; 1225(2):187-90. PubMed ID: 8280787
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria.
    Todd DJ; Hughes AE; Ennis KT; Ward AJ; Burrows D; Nevin NC
    Hum Mol Genet; 1993 Sep; 2(9):1495-6. PubMed ID: 8242081
    [No Abstract]   [Full Text] [Related]  

  • 8. Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
    Weiss Y; Balwani M; Chen B; Yasuda M; Nazarenko I; Desnick RJ
    Mol Genet Metab; 2019 Nov; 128(3):358-362. PubMed ID: 30454868
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria.
    Nakahashi Y; Fujita H; Taketani S; Ishida N; Kappas A; Sassa S
    Proc Natl Acad Sci U S A; 1992 Jan; 89(1):281-5. PubMed ID: 1729699
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.
    Barman-Aksözen J; C Wiek P; Bansode VB; Koentgen F; Trüb J; Pelczar P; Cinelli P; Schneider-Yin X; Schümperli D; Minder EI
    Dis Model Mech; 2017 Mar; 10(3):225-233. PubMed ID: 28093505
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.
    Gouya L; Puy H; Robreau AM; Bourgeois M; Lamoril J; Da Silva V; Grandchamp B; Deybach JC
    Nat Genet; 2002 Jan; 30(1):27-8. PubMed ID: 11753383
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells.
    Aplin C; Whatley SD; Thompson P; Hoy T; Fisher P; Singer C; Lovell CR; Elder GH
    J Invest Dermatol; 2001 Dec; 117(6):1647-9. PubMed ID: 11886534
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.