Prevalence of the 281 (Gly----Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda.
The prevalence of the 281 (Gly----Glu) mutation in hepatoerythropoietic porphyria (HEP) was investigated by the use of hybridization with a synthetic oligonucleotide probe. The mutation was found in HEP-affected members of two unrelated families from Spain, but was absent in two other patients from Italy and Portugal who also had HEP. Moreover, this mutation was not detected in 13 unrelated cases of familial (type II) porphyria cutanea tarda.
D002262:Carboxy-Lyases / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005971:Glutamates; D018698:Glutamic Acid; D005998:Glycine; D006801:Humans; D008107:Liver Diseases / Q000235:genetics*; D009154:Mutation; D009693:Nucleic Acid Hybridization; D011164:Porphyrias / Q000235:genetics*; D012871:Skin Diseases / Q000235:genetics*; D014575:Uroporphyrinogen Decarboxylase / Q000235:genetics*
D005971:Glutamates; D018698:Glutamic Acid; D004247:DNA; D002262:Carboxy-Lyases; D014575:Uroporphyrinogen Decarboxylase; D005998:Glycine