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Congenital Erythropoietic Porphyria: Report of a Novel Mutation with Absence of Clinical Manifestations in a Homozygous Mutant Sibling

✍ Scribed by Ged, Cecile; Megarbane, Hala; Chouery, Eliane; Lalanne, Magalie; Megarbane, Andre; Verneuil, Hubert de


Book ID
110733277
Publisher
Nature Publishing Group
Year
2004
Tongue
English
Weight
99 KB
Volume
123
Category
Article
ISSN
0022-202X

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The molecular basis of the uroporphyrinogen III synthase (UROIIIS) deficiency was investigated in a member of a Japanese family. This defect in heme biosynthesis is responsible for a rare autosomal recessive disease: congenital erythropoietic porphyria (CEP) or Gu Β¨nther's disease. The patient was h