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.-Reference-Cited by-同舟云学术

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.

Published:1996-05-01 Issue:5 Volume:33 Page:437-438
ISSN:1468-6244
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

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

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference12 articles.

1. The porphyrias;Kappas, A.; Sassa, S.; Galbraith, R.A.; Nordmann, Y.,1995

2. Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene;Chen, C.H.; Astrin, K.H.; Lee, G.; Anderson, K.E.; Desnick, R.J.;Clin Invest,1994

3. Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene;Kauppinen, R.; Mustajoki, S.; Pihlaja, H.; Peltonen, L.; Mustajoki, P.;Hum Mol Genet,1995

4. DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria;true;Lancet,1987

5. Hunian gene nititation;Cooper, D.N.; Krawczak, M.,1993

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