Familial Porphyria Cutanea Tarda: Hybridization Analysis of the Uroporphyrinogen Decarboxylase Locus

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 po...

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Bibliographic Details
Published in:Human heredity 1988, Vol.38 (5), p.283-286
Main Authors: Hansen, Joanna L., O'Connell, Peter, Romana, Marc, Romeo, Paul-Henri, Kushner, James P.
Format: Article
Language:English
Subjects:
Base Sequence
Biological and medical sciences
Carboxy-Lyases - genetics
DNA
Humans
Medical sciences
Metabolic diseases
Nucleic Acid Hybridization
Original Paper
Original Papers
Other metabolic disorders
Pigments (porphyrias, hyperbilirubinemias...)
Polymorphism, Restriction Fragment Length
Porphyrias - genetics
Restriction Mapping
Skin Diseases - genetics
Uroporphyrinogen Decarboxylase - blood
Uroporphyrinogen Decarboxylase - genetics
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Summary: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.
ISSN:0001-5652
1423-0062
DOI:10.1159/000153800