Article
Prenatal diagnosis in congenital erythropoietic porphyria by metabolic measurement and DNA mutation analysis.
Prenatal diagnosis - 1 Jan 1996
Ged C, Moreau-Gaudry F, Taine L, Hombrados I, Calvas P, Colombies P, De Verneuil H
Abstract excerpt
Identification of uroporphyrinogen III synthase (UROIIIS) gene mutations in patients with congenital erythropoietic porphyria (CEP) allows fast and reliable carrier detection and prenatal diagnosis. We describe here the first case of prenatal diagnosis by concomitant measurement of uroporphyrin I in amniotic fluid and direct detection of the gene mutation. A French couple, whose first child was diagnosed with...
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