1) Rudles RW, Falls HF. Hereditary (sex-linked?) anemia. Am J Med Sci. 1946; 211: 641-658.
2) Cotter PD, Rucknagel DL, Bishop DF. X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley. Blood. 1994; 84: 3915-3924.
3) Bergmann AK, Campagna DR, McLoughlin EM, et al. Systemic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Pediatr Blood Cancer. 2010; 54: 273-278.