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Congenital Erythropoietic Porphyria: Characterization of Murine Models of the Severe Common (C73R/C73R) and Later-Onset Genotypes

Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder due to the deficient activity of uroporphyrinogen III synthase (UROS). Knock-in mouse models were generated for the common, hematologically severe human genotype, C73R/C73R, and milder genotypes (C73R/V99L and V99L/V99L). T...

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Detalhes bibliográficos
Main Authors: Bishop, David F, Clavero, Sonia, Mohandas, Narla, Desnick, Robert J
Formato: Artigo
Idioma:Inglês
Publicado em: ScholarOne 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3146604/
https://ncbi.nlm.nih.gov/pubmed/21365124
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2119/molmed.2010.00258
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