Article
RPS19 mutations in patients with Diamond-Blackfan anemia.
Human mutation - 1 Jul 2008
Campagnoli Maria Francesca, Ramenghi Ugo, Armiraglio Marta, Quarello Paola, Garelli Emanuela, Carando Adriana, Avondo Federica, Pavesi Elisa, Fribourg Sébastien, Gleizes Pierre-Emmanuel, Loreni Fabrizio, Dianzani Irma
Abstract excerpt
Diamond-Blackfan anemia (DBA) is an inherited disease characterized by pure erythroid aplasia. Thirty percent (30%) of patients display malformations, especially of the hands, face, heart, and urogenital tract. DBA has an autosomal dominant pattern of inheritance. De novo mutations are common and familial cases display wide clinical heterogeneity. Twenty-five percent (25%) of patients carry a mutation in the...
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