kinases, kinase
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protein kinases
3 December 2003 -
ribosomopathies
30 March 2010Ribosomopathies comprise 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 syndromes:
Shwachman-Diamond syndrome (...)
