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.
Publication types
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Base Sequence
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Carboxy-Lyases / genetics*
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DNA
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Humans
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Nucleic Acid Hybridization
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Polymorphism, Restriction Fragment Length
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Porphyrias / genetics*
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Restriction Mapping
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Skin Diseases / genetics*
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Uroporphyrinogen Decarboxylase / blood
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Uroporphyrinogen Decarboxylase / genetics*
Substances
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DNA
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Carboxy-Lyases
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Uroporphyrinogen Decarboxylase