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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 mutations included three point mutations that resulted in amino acid substitutions: a lysine to glutamine at amino acid...

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Identifiers

PMID: 8896428

Genes

UROD

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Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.PMID 8896428Read ↗

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