Bottomley, Sylvia S.

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

Guernsey, D. L., Jiang, H., Campagna, D. R., Evans, S. C., Ferguson, M., Kellogg, M. D., Lachance, M., Matsuoka, M., Nightingale, M., Rideout, A., et al. (2009) · Nature Genetics

Iron Metabolism and DisordersHemoglobinopathies and Related Disorders

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Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Chakraborty, P. K., Schmitz-Abe, K., Kennedy, E. K., Mamady, H., Naas, T., Durie, D., Campagna, D. R., Lau, A., Sendamarai, A. K., Wiseman, D. H., et al. (2014) · Blood

Iron Metabolism and DisordersRNA and protein synthesis mechanisms

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Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

Schmitz-Abe, K., Ciesielski, S. J., Schmidt, P. J., Campagna, D. R., Rahimov, F., Schilke, B. A., Cuijpers, M., Rieneck, K., Lausen, B., Linenberger, M. L., et al. (2015) · Blood

Iron Metabolism and DisordersHemoglobinopathies and Related Disorders

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