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pubmed-article:12750732pubmed:abstractTextA total of 25% of patients presenting with Diamond-Blackfan anemia (DBA) carry mutations in the rps19 gene, which encodes protein RPS19 of the small ribosomal subunit. The other DBA cases carry mutations in other, unknown gene(s).lld:pubmed
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pubmed-article:12750732pubmed:articleTitleTen novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene.lld:pubmed
pubmed-article:12750732pubmed:affiliationService d'Hématologie, d'Immunlogie et de Cytogénétique, Hôpital de Bicêtre, AP-HP, Faculté de Médecine Paris-Sud, France.lld:pubmed
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