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British Journal of Haematology, ISSN 0007-1048, 09/2008, Volume 142, Issue 6, pp. 859 - 876
Journal Article
British Journal of Haematology, ISSN 0007-1048, 03/2016, Volume 172, Issue 5, pp. 782 - 785
Diamond‐Blackfan anaemia ( DBA ) is an inherited disease characterized by pure erythroid aplasia that has been tagged as a ‘ribosomopathy’. We report a... 
mutation | diagnosis | Diamond Blackfan anaemia | gene | rRNA | RP gene | Diagnosis | Mutation | PHENOTYPE | MUTATIONS | HEMATOLOGY | Anemia, Diamond-Blackfan - genetics | Gene Deletion | Humans | Electrophoresis, Capillary - methods | RNA, Ribosomal - genetics | Anemia, Diamond-Blackfan - diagnosis | Case-Control Studies | Ribosomal RNA | Anemia | Analysis | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 12/2010, Volume 31, Issue 12, pp. 1269 - 1279
Journal Article
Blood Cells, Molecules, and Diseases, ISSN 1079-9796, 05/2017, Volume 64, pp. 38 - 44
Diamond-Blackfan anemia (DBA) is a rare congenital disorder presenting remarkable phenotypic overlap with other inherited bone marrow failure syndromes, making... 
Diamond-Blackfan anemia | RPL5 | RPS19 | Whole exome sequencing | Mosaicism | Inherited bone marrow failure syndromes
Journal Article
Journal of Pediatric Hematology/Oncology, ISSN 1077-4114, 10/2016, Volume 38, Issue 7, pp. e260 - e262
Diamond Blackfan anemia (DBA) is an inherited syndrome usually presenting with severe macrocytic anemia in infancy, paucity of erythroid precursors in the bone... 
targeted sequencing | DBA | high throughput sequencing | Diamond Blackfan anemia | next-generation sequencing | ONCOLOGY | PEDIATRICS | MUTATIONS | RIBOSOMAL-PROTEIN GENES | HEMATOLOGY | Adenosine Deaminase - blood | Anemia, Diamond-Blackfan - genetics | Ribosomal Proteins - genetics | Humans | Female | Infant | Mutation | Anemia, Diamond-Blackfan - diagnosis | Index Medicus
Journal Article
Journal Article
Molecular Therapy, ISSN 1525-0016, 08/2017, Volume 25, Issue 8, pp. 1805 - 1814
Diamond-Blackfan anemia is a congenital erythroid hypoplasia and is associated with physical malformations and a predisposition to cancer. Twenty-five percent... 
Diamond-Blackfan anemia | lentiviral vectors | gene therapy | MEDICINE, RESEARCH & EXPERIMENTAL | RETROVIRAL VECTORS | TRANSPLANTATION | CLONAL SELECTION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | IMPROVES | GENE-TRANSFER | ERYTHROID DEVELOPMENT | GATA1 MUTATIONS | EXPRESSION | RIBOSOMAL-PROTEIN S19 | REGISTRY | Genetic Therapy | RNA, Small Interfering - genetics | Cell Proliferation | Humans | Cell Differentiation - genetics | RNA Interference | Bone Marrow - metabolism | Bone Marrow Transplantation | Anemia, Diamond-Blackfan - therapy | Lentivirus - genetics | Transgenes | Gene Order | Disease Models, Animal | Promoter Regions, Genetic | Gene Expression | Transduction, Genetic | Bone Marrow Cells - cytology | Ribosomal Proteins - genetics | Hematopoiesis - genetics | Virus Integration | Anemia, Diamond-Blackfan - diagnosis | Genetic Vectors - genetics | Phenotype | Animals | Anemia, Diamond-Blackfan - genetics | Graft Survival - genetics | Bone Marrow - pathology | Mice | Bone Marrow Cells - metabolism | Cell proliferation | Hypoplasia | Spleen | Phenotypes | Hematology | Anemia | Congenital defects | Patients | Vectors (Biology) | Promoters | Blood | Polymerase chain reaction | Studies | Genotype & phenotype | Mutagenesis | Rodents | Insertional mutagenesis | Bone marrow | Bone (long) | Mutation | Gene therapy | Evacuations & rescues | Elongation | Cancer | Index Medicus | Original | Basic Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Lentiviral vectors | Cell and Molecular Biology | Klinisk medicin | Clinical Medicine | Hematologi | Medicinska och farmaceutiska grundvetenskaper | Cell- och molekylärbiologi
Journal Article
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