Title : Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia.

Pub. Date : 2014 Feb

PMID : 23935018






1 Functional Relationships(s)
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1 Importantly, two mutations, each of which disrupts the GATA-binding site in the enhancer, were identified in unrelated male patients with congenital sideroblastic anemia, and the lower expression level of ALAS2 mRNA in bone marrow erythroblasts was confirmed in one of these patients. gata 5'-aminolevulinate synthase 2 Homo sapiens