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01-11-2017 | Letter to the Editor

A novel heterozygous ALAS2 mutation in a female with macrocytic sideroblastic anemia resembling myelodysplastic syndrome with ring sideroblasts: a case report and literature review

Published in: Annals of Hematology | Issue 11/2017

Excerpt

Dear Editor, …

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Cotter PD, May A, Fitzsimons EJ, Houston T, Woodcock BE, al-Sabah AI, Wong L, Bishop DF (1995) 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. J Clin Invest 96:2090–2096

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Title: A novel heterozygous ALAS2 mutation in a female with macrocytic sideroblastic anemia resembling myelodysplastic syndrome with ring sideroblasts: a case report and literature review
Publication date: 01-11-2017
Published in: Annals of Hematology / Issue 11/2017
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI: https://doi.org/10.1007/s00277-017-3106-7

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