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...

全面介紹

書目詳細資料

發表在:	J Clin Invest
Principais autores:	Solis, Constanza, Aizencang, Gerardo I., Astrin, Kenneth H., Bishop, David F., Desnick, Robert J.
格式:	Artigo
語言:	Inglês
出版:	American Society for Clinical Investigation 2001
主題:	Article
在線閱讀:	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
標簽:	添加標簽 沒有標簽, 成為第一個標記此記錄!