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Article

Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).

Blood - 1 May 1990

Deybach J C, de Verneuil H, Boulechfar S, Grandchamp B, Nordmann Y

Abstract excerpt

Congenital erythropoietic porphyria (Günther's disease) is a rare disorder of heme biosynthesis inherited in an autosomal recessive fashion. The molecular abnormality responsible for the characteristic defect in uroporphyrinogen III synthase activity was investigated in two patients. For the first patient, complementary DNA was specifically amplified using the polymerase chain reaction and subsequently cloned and...

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PMID: 2331520

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).PMID 2331520Read ↗

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