𝔖 Bobbio Scriptorium
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Crystal structure of human uroporphyrinogen III synthase

✍ Scribed by Mathews, M. A.A.

Book ID
111748216
Publisher
Nature Publishing Group
Year
2001
Tongue
English
Weight
570 KB
Volume
20
Category
Article
ISSN
0261-4189

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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