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HEPATOERYTHROPOIETIC PORPHYRIA: A NEW UROPORPHYRINOGEN DECARBOXYLASE DEFECT OR HOMOZYGOUS PORPHYRIA CUTANEA TARDA?

โœ Scribed by Elder, G.H.; Smith, S.G.; Herrero, C.; Mascaro, J.M.; Lecha, M.; Muniesa, A.M.; Czarnecki, D.B.; Brenan, J.; Poulos, V.; De Salamanca, R.E.


Book ID
122452429
Publisher
The Lancet
Year
1981
Tongue
English
Weight
524 KB
Volume
317
Category
Article
ISSN
0140-6736

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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