Ribosomal protein mutations in Diamond-Blackfan anemia: might they operate upstream from protein synthesis?

Abstract excerpt

The inherited bone marrow failure syndromes are clinically distinct but share some common features. Difficult to treat and typified by a poor prognosis, their pathogenesis is unknown. Recent findings that some patients with the erythroblastopenia Diamond-Blackfan anemia (DBA) have mutations in ribosomal proteins have led to the idea that this and perhaps other bone marrow failure disorders result from an...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Anemia, Diamond-Blackfan
• Share to Mutation