Investigation of a putative role for FLVCR, a cytoplasmic heme exporter, in Diamond-Blackfan anemia
JG Quigley, H Gazda, Z Yang, S Ball, CA Sieff… - Blood Cells, Molecules …, 2005 - Elsevier
Diamond-Blackfan anemia (DBA) is a rare congenital pure red cell aplasia. Previous studies
indicate that mutations of a gene on chromosome 19q13. 2, which encodes a ribosomal
protein, are responsible for 25% of cases. Recent investigations suggest both the presence
of a second candidate region on chromosome 8p and non-19q, non-8p disease. In linkage
analysis studies of 28 multiplex DBA families, we identified 8 families with disease linkage to
chromosome 1q31. In 4 families, the disease linked exclusively to 1q31. Here, we report that …
indicate that mutations of a gene on chromosome 19q13. 2, which encodes a ribosomal
protein, are responsible for 25% of cases. Recent investigations suggest both the presence
of a second candidate region on chromosome 8p and non-19q, non-8p disease. In linkage
analysis studies of 28 multiplex DBA families, we identified 8 families with disease linkage to
chromosome 1q31. In 4 families, the disease linked exclusively to 1q31. Here, we report that …
