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This base change leads to a protein that is very rapidly degraded in the presence of cell lysate. Characterization of the mutation will allow comparison of this defect in a homozygous patient with defects in other patients with familial porphyria cutanea tarda.<\/jats:p>","DOI":"10.1126\/science.3775362","type":"journal-article","created":{"date-parts":[[2006,10,5]],"date-time":"2006-10-05T20:28:52Z","timestamp":1160080132000},"page":"732-734","source":"Crossref","is-referenced-by-count":64,"title":["Uroporphyrinogen Decarboxylase Structural Mutant (Gly281\u2192Glu) in a Case of Porphyria"],"prefix":"10.1126","volume":"234","author":[{"given":"Hubert","family":"de Verneuil","sequence":"first","affiliation":[{"name":"aculty of Medicine X. Bichat, Department of Biochemistry, Hospital Louis Mourier, Colombes, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Grandchamp","sequence":"additional","affiliation":[{"name":"aculty of Medicine X. 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