Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria

Uroporphyrinogen decarboxylase activity was measured in hemoglobin-free lysates from two patients with hepatoerythropoietic porphyria (HEP) and from 12 unrelated patients with familial porphyria cutanea tarda (PCT). In HEP patients, enzyme activities were 5% of normal, and familial studies clearly c...

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Veröffentlicht in:American journal of human genetics 1984-05, Vol.36 (3), p.613-622
Hauptverfasser: DE VERNEUIL, H, BEAUMONT, C, DEYBACH, J.-C, NORDMANN, Y, SFAR, Z, KASTALLY, R
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Sprache:eng
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