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Uroporphyrinogen III Cosynthetase in Human Congenital Erythropoietic Porphyria

โœ Scribed by Giovanni Romeo and Ephraim Y. Levin

Book ID
123649102
Publisher
National Academy of Sciences
Year
1969
Tongue
English
Weight
880 KB
Volume
63
Category
Article
ISSN
0027-8424

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๐Ÿ“œ SIMILAR VOLUMES

Molecular basis of congenital erythropoi
Molecular basis of congenital erythropoietic porphyria: Mutations in the human uroporphyrinogen III synthase gene
โœ Weiming Xu; Kenneth H. Astrin; Robert J. Desnick ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 541 KB

Congenital erythropoietic porphyria (CEP) is an autosomal recessive inborn error of metabolism that results from the markedly deficient activity of the fourth enzyme in the heme biosynthetic pathway, uroporphyrinogen 111 synthase (URO-synthase). T o date, 17 mutations have been described including 1

Heterogeneity of mutations in the uropor
Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria
โœ Samia Boulechfar; Vasco Silva; Jean-Charles Deybach; Yves Nordmann; Bernard Gran ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› Springer ๐ŸŒ English โš– 578 KB

## Congenital erythropoietic porphyria (CEP) or Gt~nther's disease is an inborn error of heme biosynthesis transmitted as an autosomal recessive trait and characterized by a profound deficiency of uroporphyrinogen III synthase (UROIIIS) activity. We have previously described two missense mutations