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Journal article

Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations.

Abstract:

Acquired somatic mutations in ATRX, an X-linked gene encoding a chromatin-associated protein, were recently identified in 4 patients with the rare subtype of myelodysplastic syndrome (MDS) associated with thalassemia (ATMDS). Here we describe a series of novel point mutations in ATRX detected in archival DNA samples from marrow and/or blood of patients with ATMDS by use of denaturing high-performance liquid chromatography (DHPLC), a technique sensitive to low-level mosaicism. Two of the new m...

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Publication status:
Published

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Publisher copy:
10.1182/blood-2003-09-3360

Authors


Steensma, DP More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Molecular Medicine, Biomedical Research Centre
Fisher, CA More by this author
Gibbons, RJ More by this author
Journal:
Blood
Volume:
103
Issue:
6
Pages:
2019-2026
Publication date:
2004-03-05
DOI:
EISSN:
1528-0020
ISSN:
0006-4971
URN:
uuid:7c76fff1-9c74-4ed9-8a4a-16cf622526fd
Source identifiers:
124701
Local pid:
pubs:124701

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