Familial porphyria cutanea tarda: hybridization analysis of the uroporphyrinogen decarboxylase locus |
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| Authors: | J L Hansen P O'Connell M Romana P H Romeo J P Kushner |
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| Institution: | Division of Hematology and Oncology, University of Utah Medical Center, Salt Lake City. |
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| 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. |
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