Literature DB >> 8364548

Human erythropoietic protoporphyria: identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene.

Y Nakahashi1, H Miyazaki, Y Kadota, Y Naitoh, K Inoue, M Yamamoto, N Hayashi, S Taketani.   

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Year:  1993        PMID： 8364548     DOI： 10.1093/hmg/2.7.1069

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  8 in total

1.  Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.

Authors:  U B Rüfenacht; L Gouya; X Schneider-Yin; H Puy; B W Schäfer; R Aquaron; Y Nordmann; E I Minder; J C Deybach
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

2.  Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation.

Authors:  J Bloomer; C Bruzzone; L Zhu; Y Scarlett; S Magness; D Brenner
Journal:  J Clin Invest       Date:  1998-07-01       Impact factor: 14.808

Review 3.  Erythropoietic protoporphyria.

Authors:  T M Cox
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

Review 4.  Theodore Woodward Award. Pathogenesis of biochemical abnormalities in protoporphyria.

Authors:  J R Bloomer; M B Poh-Fitzpatrick
Journal:  Trans Am Clin Climatol Assoc       Date:  2000

Review 5.  The ferrochelatase gene structure and molecular defects associated with erythropoietic protoporphyria.

Authors:  S Taketani; H Fujita
Journal:  J Bioenerg Biomembr       Date:  1995-04       Impact factor: 2.945

6.  Human ferrochelatase: a novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing.

Authors:  X Schneider-Yin; B W Schäfer; O Tönz; E I Minder
Journal:  Hum Genet       Date:  1995-04       Impact factor: 4.132

7.  Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.

Authors:  L Gouya; J C Deybach; J Lamoril; V Da Silva; C Beaumont; B Grandchamp; Y Nordmann
Journal:  Am J Hum Genet       Date:  1996-02       Impact factor: 11.025

8.  Molecular defects in erythropoietic protoporphyria with terminal liver failure.

Authors:  X Schneider-Yin; B W Schäfer; P Möhr; G Burg; E I Minder
Journal:  Hum Genet       Date:  1994-06       Impact factor: 4.132
  8 in total

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