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A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndrome.

Abstract:

We describe a patient with acquired alpha-thalassemia myelodysplastic syndrome (ATMDS). A previously healthy 66-year-old man presented with hemoglobin of 9.3 g/dL, mean corpuscular volume 59 fL, and a bone marrow aspirate with increased erythroid precursors and hypolobulated megakaryocytes. Hemoglobin H inclusions were seen in most red cells after 1% brilliant cresyl blue supravital stain of the peripheral blood. At the molecular level, we identified of a novel mutation in the most 3' exon of...

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Publication status:
Published

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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Weatherall Insti. of Molecular Medicine
Role:
Author
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Journal:
European journal of haematology
Volume:
76
Issue:
5
Pages:
432-453
Publication date:
2006-05-05
DOI:
EISSN:
1600-0609
ISSN:
0902-4441
URN:
uuid:c671e60b-cdbf-451b-8fb5-6d81c1a79b38
Source identifiers:
125051
Local pid:
pubs:125051

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