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Journal article

Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).

Abstract:

Inherited mutations of specific genes have elucidated the normal roles of the proteins they encode by relating specific mutations to particular phenotypes. But many potentially informative mutations in such genes are lethal early in development. Consequently, inherited mutations may not reflect all the functional roles of such proteins. Acquired, somatic defects should reflect a wider spectrum of mutations because they are not prone to negative selection in development. It has been difficult ...

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Publication status:
Published

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Publisher copy:
10.1038/ng1213

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Journal:
Nature genetics
Volume:
34
Issue:
4
Pages:
446-449
Publication date:
2003-08-05
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
URN:
uuid:ebe60da0-8da9-45f0-b641-160a99494a1e
Source identifiers:
124776
Local pid:
pubs:124776

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