Mutation of a GATA1 binding site in ALAS2 intron 1 arrests erythroid development in vivo

来源 :The 2nd International Symposium on Erythrocyte Biology(2016第 | 被引量 : 0次 | 上传用户:caesarsarahluckgirl
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  ALAS2 encodes δ-aminolevulinate synthase,which catalyzes the rate-limiting step of heme biosynthesis in erythroid cells.ALAS2 mutations are responsible for X-linked sideroblastic anemia (XLSA),which mostly locate in the conserved coding exons.
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