RPS19 mutations in patients with Diamond
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Maria Francesca Campagnoli; Ugo Ramenghi; Marta Armiraglio; Paola Quarello; Eman
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Article
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2008
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John Wiley and Sons
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English
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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 fa