Conference
Molecular Analysis of Diamond Blackfan Anemia and Genotype-Phenotype Correlation: Experience from the Canadian Inherited Marrow Failure Registry
Abstract
Abstract
Background/Objectives: Diamond Blackfan anemia (DBA) is an inherited disorder characterized by chronic hypoproductive anemia, physical malformations, and an increased risk of malignancies. At least 12 DBA genes have been identified, which include various ribosomal protein genes and the transcription factor GATA1. The aims of our study were (1) to identify the mutation spectrum of DBA patients, utilizing a cohort of …
Authors
Arbiv OA; Zlateska B; Klaassen RJ; Fernandez C; Yanofsky R; Wu JK; Robitaille N; Silva M; Lipton JH; Brossard J
Volume
126
Publisher
American Society of Hematology
Publication Date
December 3, 2015
DOI
10.1182/blood.v126.23.3621.3621
Conference proceedings
Blood
Issue
23
ISSN
0006-4971