Article
Alteration of heme metabolism in a cellular model of Diamond-Blackfan anemia.
European journal of haematology - 1 Apr 2016
Mercurio Sonia, Aspesi Anna, Silengo Lorenzo, Altruda Fiorella, Dianzani Irma, Chiabrando Deborah
Abstract excerpt
Diamond-Blackfan anemia (DBA) is a congenital pure red cell aplasia often associated with skeletal malformations. Mutations in ribosomal protein coding genes, mainly in RPS19, account for the majority of DBA cases. The molecular mechanisms underlying DBA pathogenesis are still not completely understood. Alternative spliced isoforms of FLVCR1 (feline leukemia virus subgroup C receptor 1) transcript coding for...
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