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Journal article

Functional significance of mutations in the Snf2 domain of ATRX.

Abstract:

ATRX is a member of the Snf2 family of chromatin-remodelling proteins and is mutated in an X-linked mental retardation syndrome associated with alpha-thalassaemia (ATR-X syndrome). We have carried out an analysis of 21 disease-causing mutations within the Snf2 domain of ATRX by quantifying the expression of the ATRX protein and placing all missense mutations in their structural context by homology modelling. While demonstrating the importance of protein dosage to the development of ATR-X synd...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1093/hmg/ddr163

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Clinical Laboratory Sciences
Role:
Author
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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Strategic
Role:
Author
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Name:
National Institute for Health Research
Publisher:
Oxford University Press
Journal:
Human molecular genetics More from this journal
Volume:
20
Issue:
13
Pages:
2603-2610
Publication date:
2011-01-01
DOI:
EISSN:
1460-2083
ISSN:
0964-6906

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