We have characterised three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. The first of these was a G to A substitution in the 5' splice junction of exon 4 which generated an mRNA that lacked exon 4. The second was a nonsense mutation in exon 5 which ch
The molecular basis of porphyria cutanea tarda in Chile: Identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene
✍ Scribed by Pamela Poblete-Gutiérrez; Manuel Mendez; Tonio Wiederholt; Hans F. Merk; Antonio Fontanellas; Carlos Wolff; Jorge Frank
- Book ID
- 110754960
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 677 KB
- Volume
- 13
- Category
- Article
- ISSN
- 0906-6705
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