Article
Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia.
Human genetics - 1 Nov 1999
Matsson H, Klar J, Draptchinskaia N, Gustavsson P, Carlsson B, Bowers D, de Bont E, Dahl N
Abstract excerpt
Diamond-Blackfan anemia (DBA) is a rare constitutional erythroblastopenia characterized by a specific defect in erythroid differentiation. Recently, mutations in the gene encoding ribosomal protein (RP) S19 were found in a subset of patients with the disease. To characterize further RPS19 mutations and to investigate genotype-phenotype relationships, we screened this gene for mutations in patients with DBA by...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.