Tissue-Specific Splicing Mutation in Acute Intermittent Porphyria
✍ Scribed by B. Grandchamp, C. Picat, V. Mignotte, J. H. P. Wilson, K. Te Velde, L. Sandkuyl, P. H. Roméo, M. Goossens and Y. Nordmann
- Book ID
- 123636514
- Publisher
- National Academy of Sciences
- Year
- 1989
- Tongue
- English
- Weight
- 852 KB
- Volume
- 86
- Category
- Article
- ISSN
- 0027-8424
- DOI
- 10.2307/33186
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📜 SIMILAR VOLUMES
Acute intermittent porphyria (AIP) is a dominantly inherited metabolic disease caused by a partial deficiency of the third enzyme, porphobilinogen deaminase (PBGD), in the heme biosynthetic pathway. AIP has been divided into two subtypes according to the ratio of enzyme polypeptide concentration and
## Abstract Acute intermittent porphyria (AIP) is an autosomal dominant disorder resulting from porphobilmogen deaminase (PBGD) deficiency. Seven unrelated Brazilian patients were investigated regarding PBGD gene mutations by polymerase chain reaction (PCR) and single strand conformation polymorphi