_:vb50946200 . _:vb50946200 . _:vb50946200 "An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in GATA1 on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen."^^ . _:vb50946200 "url:https://pubmed.ncbi.nlm.nih.gov/22706301/"^^ . _:vb50946200 "url:https://pubmed.ncbi.nlm.nih.gov/16783379/"^^ . _:vb50946200 . _:vb50946200 . _:vb50946200 .