A NOVEL MUTATION IN ERYTHROPOIETIC PROTOPORPHYRIA - AN ABERRANT FERROCHELATASE MESSENGER-RNA CAUSED BY EXON SKIPPING DURING RNA SPLICING

Authors
WANG XH POHFITZPATRICK M CARRIERO D OSTASIEWICZ L CHEN T TAKETANI S PIOMELLI S
Citation
Xh. Wang et al., A NOVEL MUTATION IN ERYTHROPOIETIC PROTOPORPHYRIA - AN ABERRANT FERROCHELATASE MESSENGER-RNA CAUSED BY EXON SKIPPING DURING RNA SPLICING, Biochimica et biophysica acta, 1181(2), 1993, pp. 198-200
Citations number
12
Categorie Soggetti
Biophysics,Biology
Journal title
Biochimica et biophysica acta → ACNP
ISSN journal
00063002
Volume
1181
Issue
2
Year of publication
1993
Pages
198 - 200
Database
ISI
SICI code
0006-3002(1993)1181:2<198:ANMIEP>2.0.ZU;2-C
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 appeare d to be responsible for the exon skipping. Both the patient and her si ster were heterozygous for this mutation.