X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations

Dean R. Campagna, Charlotte I. de Bie, Klaus Schmitz-Abe, Marion Sweeney, Anoop K. Sendamarai, Paul J. Schmidt, Matthew M. Heeney, Helger G. Yntema, Caroline Kannengiesser, Bernard Grandchamp, Charlotte M. Niemeyer, Nine V. A. M. Knoers, Sonia Swart, Gordon Marron, Richard van Wijk, Reinier A. Raymakers, Alison May, Kyriacos Markianos, Syliva S. Bottomley, Dorine W. SwinkelsMark D. Fleming (Lead / Corresponding author)

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