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IMMUNOREACTIVE UROPORPHYRINOGEN DECARBOXYLASE IN PORPHYRIA CUTANEA TARDA

✍ Scribed by Elder, G.H.; Tovey, J.A.; Sheppard, DianeM.; Urquhart, A.J.


Book ID
121886308
Publisher
The Lancet
Year
1983
Tongue
English
Weight
540 KB
Volume
321
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