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Autoantibodies to uroporphyrinogen decarboxylase in patients with porphyria cutanea tarda

✍ Scribed by Y. Ma; A.L. Fracanzani; G. Fiorelli; R. Williams; S. Fargion; D. Vergani

Book ID
118568517
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
183 KB
Volume
28
Category
Article
ISSN
0168-8278

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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 πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 28 KB πŸ‘ 2 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