Familial Porphyria Cutanea Tarda: Hybridization Analysis of the Uroporphyrinogen Decarboxylase Locus
- 1 January 1988
- journal article
- research article
- Published by S. Karger AG in Human Heredity
- Vol. 38 (5) , 283-286
- https://doi.org/10.1159/000153800
Abstract
Familial porphyria cutanea tarda (PCT) results from a deficiency of uroporphyrinogen decarboxylase (URO-D) activity. Hybridization analysis of genomic DNA from unrelated normal individuals and PCT pedigree members failed to detect any major deletions, rearrangements or restriction fragment length polymorphisms at the URO-D locus.Keywords
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