Ribosomopathies: human disorders of ribosome dysfunction
Abstract
Ribosomopathies compose a collection of disorders in which genetic abnormalities cause impaired ribosome biogenesis and function, resulting in specific clinical phenotypes. Congenital mutations in RPS19 and other genes encoding ribosomal proteins cause Diamond-Blackfan anemia, a disorder characterized by hypoplastic, macrocytic anemia. Mutations in other genes required for normal ribosome biogenesis have been implicated in other rare congenital...
Paper Details
Title
Ribosomopathies: human disorders of ribosome dysfunction
Published Date
Apr 22, 2010
Journal
Volume
115
Issue
16
Pages
3196 - 3205
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