Biblio
Journal Article
Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D, Campagna DR, Lau A, Sendamarai AK, Wiseman DH, et al. Mutations in TRNT1, encoding the CCA-adding enzyme, cause congenital sideroblastic anemia with B cell immunodeficiency, periodic fevers and developmental delay (SIFD). Blood. 2014.