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Journal article

A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy.

Abstract:

Mutations in a number of genes have been linked to inherited dilated cardiomyopathy (DCM). However, such mutations account for only a small proportion of the clinical cases emphasising the need for alternative discovery approaches to uncovering novel pathogenic mutations in hitherto unidentified pathways. Accordingly, as part of a large-scale N-ethyl-N-nitrosourea mutagenesis screen, we identified a mouse mutant, Python, which develops DCM. We demonstrate that the Python phenotype is attribut...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1371/journal.pgen.1001000

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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
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Funding agency for:
Ashrafian, H
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Funding agency for:
Watkins, H
Publisher:
Public Library of Science Publisher's website
Journal:
PLoS genetics Journal website
Volume:
6
Issue:
6
Article number:
e1001000
Publication date:
2010-06-01
DOI:
EISSN:
1553-7404
ISSN:
1553-7390
Source identifiers:
104244

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