Crispin et al., 2020 - Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia. The Journal of Clinical Investigation   130(10):5245-5256 Full text @ Journal of Clin. Invest.
6 Genes / Markers
Marker Type Symbol Name
Gene alas2 aminolevulinate, delta-, synthase 2
Gene chrd chordin
Gene gata1a GATA binding protein 1a
Gene hprt1 hypoxanthine phosphoribosyltransferase 1
Gene hscb HscB mitochondrial iron-sulfur cluster cochaperone
Gene tfr1a transferrin receptor 1a