X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
Campagna DR; de Bie CI; Schmitz-Abe K; Sweeney M; Sendamarai AK; Schmidt PJ; Heeney MM; Yntema HG; Kannengiesser C; Grandchamp B; Niemeyer CM; Knoers NV; Swart S; Marron G; van Wijk R; Raymakers RA; May A; Markianos K; Bottomley SS; Swinkels DW; Fleming MD; American Journal Of Hematology, 2014, vol. 89, issue 3, p 315, ISSN 10968652. ISBN 10968652.

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