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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-Nnitrosourea mutagenesis screen, we identified a mouse mutant, Python, which develops DCM. We demonstrate that the Python phenotype is attributa...

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Journal:
PLoS Genetics
Volume:
6
Issue:
6
Pages:
1-18
Publication date:
2010-06-05
DOI:
EISSN:
1553-7404
ISSN:
1553-7390
URN:
uuid:aef7e273-0a3d-4ba4-b12a-558f2cdab784
Source identifiers:
104379
Local pid:
pubs:104379
Language:
English

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