Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.

Article

Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.

Blood - 1 Nov 1996

McManus J F, Begley C G, Sassa S, Ratnaike S

Abstract excerpt

We describe five new mutations in the uroporphyrinogen decarboxylase (UROD) gene. All mutations were observed in conjunction with decreased erythrocyte UROD and clinical familial porphyria cutanea tarda (fPCT), (four families) or hepatoerythropoietic porphyria (HEP), (one family). The fPCT mutati...

Topics

Family
Female
Humans
Male
Mutation
Porphyria Cutanea Tarda
Porphyria, Hepatoerythropoietic
Sequence Analysis, DNA
Uroporphyrinogen Decarboxylase

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