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Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia |
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| Authors: | Sylvia S Bottomley Brian K May Timothy C Cox Philip D Cotter David F Bishop |
| Institution: | (1) Department of Medicine, University of Oklahoma College of Medicine and Veterans Administration Medical Center, 73104 Oklahoma City, Oklahoma;(2) Department of Biochemistry, University of Adelaide, 5005 Adelaide, South Australia;(3) Department of Human Genetics, Mount Sinai School of Medicine, 10029 New York, New York;(4) Present address: Telethon Institute of Genetics and Medicine, San Raffaele International Biomedical Science Park, 20132 Milano, Italy |
| Abstract: | |
| Keywords: | X-Linked sideroblastic anemia heme biosynthesis erythroid 5-aminolevulinate synthase nucleotide substitution pyridoxine-responsive |
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