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Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria

Congenital erythropoietic porphyria, an autosomal recessive inborn error of heme biosynthesis, results from the markedly deficient activity of uroporphyrinogen III synthase. Extensive mutation analyses of 40 unrelated patients only identified approximately 90% of mutant alleles. Sequencing the recen...

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Udgivet i:J Clin Invest
Principais autores: Solis, Constanza, Aizencang, Gerardo I., Astrin, Kenneth H., Bishop, David F., Desnick, Robert J.
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2001
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Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC208941/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11254675/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI10642
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