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Research Article Free access | 10.1172/JCI118258

Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.

P D Cotter, A May, E J Fitzsimons, T Houston, B E Woodcock, A I al-Sabah, L Wong, and D F Bishop

Department of Human Genetics, Mount Sinai School of Medicine, New York 10029, USA.

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Department of Human Genetics, Mount Sinai School of Medicine, New York 10029, USA.

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Department of Human Genetics, Mount Sinai School of Medicine, New York 10029, USA.

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Department of Human Genetics, Mount Sinai School of Medicine, New York 10029, USA.

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Department of Human Genetics, Mount Sinai School of Medicine, New York 10029, USA.

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Department of Human Genetics, Mount Sinai School of Medicine, New York 10029, USA.

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Department of Human Genetics, Mount Sinai School of Medicine, New York 10029, USA.

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Department of Human Genetics, Mount Sinai School of Medicine, New York 10029, USA.

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Published October 1, 1995 - More info

Published in Volume 96, Issue 4 on October 1, 1995
J Clin Invest. 1995;96(4):2090–2096. https://doi.org/10.1172/JCI118258.
© 1995 The American Society for Clinical Investigation
Published October 1, 1995 - Version history
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