Literature DB >> 8481408

A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing.

X Wang1, M Poh-Fitzpatrick, D Carriero, L Ostasiewicz, T Chen, S Taketani, S Piomelli.   

Abstract

An aberrant ferrochelatase mRNA lacking exon 10 was found in a patient with erythropoietic protoporphyria (EPP). In her genomic DNA an A-->T transversion at position -3 of the donor site of intron 10 appeared to be responsible for the exon skipping. Both the patient and her sister were heterozygous for this mutation.

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Year:  1993        PMID： 8481408     DOI： 10.1016/0925-4439(93)90112-e

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN： 0006-3002


  9 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

9.  Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

Authors:  Emanuele Buratti; Martin Chivers; Jana Královicová; Maurizio Romano; Marco Baralle; Adrian R Krainer; Igor Vorechovsky
Journal:  Nucleic Acids Res       Date:  2007-06-18       Impact factor: 16.971
  9 in total

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