Article
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Human mutation - 1 Dec 2010
Boria Ilenia, Garelli Emanuela, Gazda Hanna T, Aspesi Anna, Quarello Paola, Pavesi Elisa, Ferrante Daniela, Meerpohl Joerg J, Kartal Mutlu, Da Costa Lydie, Proust Alexis, Leblanc Thierry, Simansour Maud, Dahl Niklas, Fröjmark Anne-Sophie, Pospisilova Dagmar, Cmejla Radek, Beggs Alan H, Sheen Mee R, Landowski Michael, Buros Christopher M, Clinton Catherine M, Dobson Lori J, Vlachos Adrianna, Atsidaftos Eva, Lipton Jeffrey M, Ellis Steven R, Ramenghi Ugo, Dianzani Irma
Abstract excerpt
Diamond-Blackfan Anemia (DBA) is characterized by a defect of erythroid progenitors and, clinically, by anemia and malformations. DBA exhibits an autosomal dominant pattern of inheritance with incomplete penetrance. Currently nine genes, all encoding ribosomal proteins (RP), have been found mutated in approximately 50% of patients. Experimental evidence supports the hypothesis that DBA is primarily the result of...
Topics
- Anemia, Diamond-Blackfan
- Base Sequence
- Databases, Genetic
- Genetic Association Studies
- Humans
- Molecular Sequence Data
- Mutagenesis
- Mutation