Ontology highlight
ABSTRACT:
SUBMITTER: Boria I
PROVIDER: S-EPMC4485435 | biostudies-literature | 2010 Dec
REPOSITORIES: biostudies-literature
Boria Ilenia I Garelli Emanuela E Gazda Hanna T HT Aspesi Anna A Quarello Paola P Pavesi Elisa E Ferrante Daniela D Meerpohl Joerg J JJ Kartal Mutlu M Da Costa Lydie L Proust Alexis A Leblanc Thierry T Simansour Maud M Dahl Niklas N Fröjmark Anne-Sophie AS Pospisilova Dagmar D Cmejla Radek R Beggs Alan H AH Sheen Mee R MR Landowski Michael M Buros Christopher M CM Clinton Catherine M CM Dobson Lori J LJ Vlachos Adrianna A Atsidaftos Eva E Lipton Jeffrey M JM Ellis Steven R SR Ramenghi Ugo U Dianzani Irma I
Human mutation 20101201 12
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 defective ribosome synthesis. By means of a large collaboration among six centers, w ...[more]