Article
Ribosomal protein gene deletions in Diamond-Blackfan anemia.
Blood - 22 Dec 2011
Farrar Jason E, Vlachos Adrianna, Atsidaftos Eva, Carlson-Donohoe Hannah, Markello Thomas C, Arceci Robert J, Ellis Steven R, Lipton Jeffrey M, Bodine David M
Abstract excerpt
Diamond-Blackfan anemia (DBA) is a congenital BM failure syndrome characterized by hypoproliferative anemia, associated physical abnormalities, and a predisposition to cancer. Perturbations of the ribosome appear to be critically important in DBA; alterations in 9 different ribosomal protein genes have been identified in multiple unrelated families, along with rarer abnormalities of additional ribosomal proteins....
Topics
- Anemia, Diamond-Blackfan
- Blotting, Northern
- Child, Preschool
- Female
- Gene Deletion
- Gene Expression Profiling
- Genome-Wide Association Study
- Genotyping Techniques
- Haploinsufficiency
- Humans