title: A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing.
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.
authors: Division of Pediatric Hematology, Columbia University College of Physicians and Surgeons, New York, NY 10032.
authors: X
authors: X
authors: Wang
authors: M
authors: M
authors: Poh-Fitzpatrick
authors: D
authors: D
authors: Carriero
authors: L
authors: L
authors: Ostasiewicz
authors: T
authors: T
authors: Chen
authors: S
authors: S
authors: Taketani
authors: S
authors: S
authors: Piomelli
mesh_terms: D000368:Aged; D001483:Base Sequence; D005091:Exons; D005260:Female; D005294:Ferrochelatase / Q000235:genetics*; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D017092:Porphyria, Erythropoietic / Q000175:diagnosis / Q000235:genetics*; D012326:RNA Splicing; D012333:RNA, Messenger / Q000032:analysis
chemical_list: D012333:RNA, Messenger; D005294:Ferrochelatase