Untangling the Phenotypic Heterogeneity of Diamond Blackfan Anemia
Author:
Publisher
Elsevier BV
Subject
Hematology
Reference79 articles.
1. Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation;Gustavsson;J Med Genet,1997
2. Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb;Gustavsson;Nat Genet,1997
3. Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity;Gustavsson;Am J Hum Genet,1998
4. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia;Draptchinskaia;Nat Genet,1999
5. Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia;Matsson;Hum Genet,1999
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