PMID: 7541650Jun 9, 1995Paper

Systematic screening for RNA with skipped exons--splicing mutations of the ferrochelatase gene

Biochimica Et Biophysica Acta
X WangS Piomelli

Abstract

A systematic method was designed to screen a large population of patients with erythropoietic protoporphyria (EPP) for aberrant ferrochelatase RNA with skipped exons. The method utilizes the new junction sequence created by exon skipping as the probe to detect such RNA species. In 7 of 17 EPP families, an aberrant ferrochelatase RNA with one exon missing was observed. Two previously unreported splicing mutations were also identified in 2 EPP families. One was a G > T transversion at the +1 position of the acceptor site of intron 8, causing exon 9 to be skipped during RNA splicing. Both the patient and her father were found to be heterozygous for this mutation. In another family, an A > G transition at the +3 position of the donor site of intron 10 was identified, associated with exon 10 skipping during RNA splicing. Both the patient and her father were heterozygous for this mutation.

References

Mar 25, 1992·Nucleic Acids Research·H SteingrimsdottirA R Lehmann
Jan 1, 1992·Proceedings of the National Academy of Sciences of the United States of America·Y NakahashiS Sassa
Dec 16, 1991·Biochemical and Biophysical Research Communications·J LamorilJ C Deybach
Dec 14, 1990·Biochemical and Biophysical Research Communications·Y NakahashiR Tokunaga

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Citations

Feb 24, 2006·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Michiyo OkadaKazumoto Iijima
Jun 25, 1998·Photodermatology, Photoimmunology & Photomedicine·D J Todd
Jul 17, 2009·Human Mutation·Sandie Le Guédard-MéreuzeSylvie Tuffery-Giraud
Sep 28, 2017·Wiley Interdisciplinary Reviews. RNA·Kinji OhnoAkio Masuda
Jun 1, 1997·Journal of Inherited Metabolic Disease·T M Cox
Jul 1, 1996·Clinics in Dermatology·H W Lim, G M Murphy

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