title: Familial porphyria cutanea tarda: hybridization analysis of the uroporphyrinogen decarboxylase locus.
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.
authors.affiliation: Division of Hematology and Oncology, University of Utah Medical Center, Salt Lake City.
authors.forename: J L
authors.initials: JL
authors.lastname: Hansen
authors.forename: P
authors.initials: P
authors.lastname: O'Connell
authors.forename: M
authors.initials: M
authors.lastname: Romana
authors.forename: P H
authors.initials: PH
authors.lastname: Romeo
authors.forename: J P
authors.initials: JP
authors.lastname: Kushner
mesh_terms: D001483:Base Sequence; D002262:Carboxy-Lyases / Q000235:genetics*; D004247:DNA; D006801:Humans; D009693:Nucleic Acid Hybridization; D012150:Polymorphism, Restriction Fragment Length; D011164:Porphyrias / Q000235:genetics*; D015183:Restriction Mapping; D012871:Skin Diseases / Q000235:genetics*; D014575:Uroporphyrinogen Decarboxylase / Q000097:blood / Q000235:genetics*
chemical_list: D004247:DNA; D002262:Carboxy-Lyases; D014575:Uroporphyrinogen Decarboxylase