Erythrocyte uroporphyrinogen decarboxylase activity and therapeutic phlebotomy in porphyria cutanea tarda

Three new mutations in the uroporphyrino

Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda

✍ Julie F. McManus; C. Glenn Begley; S. Sassa; Sujiva Ratnaike 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 1 views

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