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Analysis of DMD translocations

Abstract:

Duchenne and Becker muscular dystrophies (DMD, BMD) are allelic X-linked diseases which affect approximately one in 3500 male newborns. They are caused by mutations in a gene positioned on the short arm of the X chromosome at Xp21. The first indication of the location of this gene was the description of rare females expressing DMD and who were found to have constitutional X;autosome translocations with an X chromosome breakpoint at this site. There are now 24 such females known worldwide....

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Institution:
University of Oxford
Department:
Life and Environmental Sciences Division
Role:
Author
More by this author
Institution:
University of Oxford
Department:
Life and Environmental Sciences Division
Role:
Author

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Supervisor
Role:
Supervisor
Role:
Supervisor
Publication date:
1991
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford
Language:
English
Subjects:
UUID:
uuid:ab53825b-b18e-4f60-954a-4ea9e0435126
Local pid:
td:603840753
Source identifiers:
603840753
Deposit date:
2013-01-21

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