Non-viral delivery of the porphobilinogen deaminase cDNA into a mouse model of acute intermittent porphyria
✍ Scribed by Annika Johansson; Grzegorz Nowak; Christer Möller; Pauline Harper
- Book ID
- 116987492
- Publisher
- Elsevier Science
- Year
- 2004
- Tongue
- English
- Weight
- 417 KB
- Volume
- 82
- Category
- Article
- ISSN
- 1096-7192
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Direct cDNA sequencing has been performed on asymmetrically amplified transcripts from the human porphobilinogen deaminase gene. Lymphocytes from 30 patients with acute intermittent porphyria were the source of mRNA; of the seven separate point mutations detected, three were silent, whereas four res
Direct cDNA sequencing was performed on asymmetrically amplified transcripts from the porphobilinogen deaminase (PBG-D) gene of thirteen unrelated individuals with acute intermittent porphyria. Four different mutations and a polymorphic site were detected in exon 12 of the gene, four being the resul