Review paper
A knock-in mouse model of congenital erythropoietic porphyria
Abstract
Congenital erythropoietic porphyria (CEP) is a recessive autosomal disorder characterized by a deficiency in uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme biosynthetic pathway. The severity of the disease, the lack of specific treatment except for allogeneic bone marrow transplantation, and the knowledge of the molecular lesions are strong arguments for gene therapy. An animal model of CEP has been designed to evaluate the...
Paper Details
Title
A knock-in mouse model of congenital erythropoietic porphyria
Published Date
Jan 1, 2006
Journal
Volume
87
Issue
1
Pages
84 - 92
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