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 polymorphisms at the URO-D locus.
Hansen
J L
JL
Division of Hematology and Oncology, University of Utah Medical Center, Salt Lake City.
O'Connell
P
P
Romana
M
M
Romeo
P H
PH
Kushner
J P
JP
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*
D004247:DNA; D002262:Carboxy-Lyases; D014575:Uroporphyrinogen Decarboxylase