Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at -22 bp from the 5' splice site causes skipping of exon 3.

doi:10.1136/jmg.33.5.437

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Article

Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at -22 bp from the 5' splice site causes skipping of exon 3.

Journal of medical genetics - 1 May 1996

Llewellyn D H, Scobie G A, Urquhart A J, Whatley S D, Roberts A G, Harrison P R, Elder G H

Abstract excerpt

Acute intermittent porphyria (AIP) results from mutations in the porphobilinogen deaminase (PBG) gene. Three of 14 randomly selected, unrelated patients with the cross reacting immunological material (CRIM) negative form of AIP were found to have previously undescribed RNA splicing defects. Defec...

Topics

Acute Disease
Binding Sites
Codon
Exons
Humans
Hydroxymethylbilane Synthase
Mutation
Porphyrias
RNA Splicing

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