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Pediatric Blood & Cancer, ISSN 1545-5009, 07/2014, Volume 61, Issue 7, pp. 1319 - 1321
Mutations in the hematopoietic transcription factor GATA-1 alter the proliferation/differentiation of hemopoietic progenitors. Mutations in exon 2 interfere... 
Gata‐1 | Diamond–Blackfan | ribosomal protein | erythropoiesis | anemia | Diamond-Blackfan | Erythropoiesis | Anemia | Ribosomal protein | Gata-1 | Point Mutation | Codon, Initiator - genetics | Anemia, Diamond-Blackfan - genetics | Humans | GATA1 Transcription Factor - genetics | Female | Male | Protein Isoforms - genetics | Proteins | Genetic aspects | Genetic disorders | Index Medicus
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
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2011, Volume 155, Issue 11, pp. 2746 - 2749
Journal Article
Haematologica, ISSN 0390-6078, 11/2005, Volume 90, Issue 11, pp. 1453 - 1462
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 07/2014, Volume 61, Issue 7, pp. 1319 - 1321
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2009, Volume 149A, Issue 4, pp. 770 - 775
Human GATA3 haploinsufficiency leads to HDR (hypoparathyroidism, deafness, and renal dysplasia) syndrome. The development of a specific subset of organs in... 
hypoparathyroidism | GATA3 | HDR syndrome | deafness | gene | renal anomalies
Journal Article
Revista Portuguesa de Medicina Geral e Familiar, ISSN 2182-5173, 12/2015, Volume 31, Issue 6, pp. 392 - 400
Objetivo: Rever a evidência sobre a eficácia da terapêutica tripla (TT) e da terapêutica sequencial (TS) na erradicação da infeção por Helicobacter pylori (H.... 
MEDICINE, GENERAL & INTERNAL
Journal Article