Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
There are significant clinical benefits to be gained from a combined mutation detection protocol for carrier detection. It is recommended that mutation-specific carrier frequencies for the different classes of dystrophin mutations should be taken into account in genetic counselling practice
368-372
Taylor, Peter J.
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Maroulis, Sarah
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Mullan, Glenda L.
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Pedersen, Robyn L.
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Baumli, Aurora
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Elakis, George
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Piras, Sara
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Walsh, Corrina
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Prósper-Gutiérrez, Benito
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De La Puente-Alonso, Fernando
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Bell, Christopher G.
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Mowat, David R.
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Johnston, Heather M.
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Buckley, Michael F.
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June 2007
Taylor, Peter J.
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Maroulis, Sarah
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Mullan, Glenda L.
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Pedersen, Robyn L.
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Baumli, Aurora
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Elakis, George
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Piras, Sara
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Walsh, Corrina
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Prósper-Gutiérrez, Benito
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De La Puente-Alonso, Fernando
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Bell, Christopher G.
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Mowat, David R.
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Johnston, Heather M.
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Buckley, Michael F.
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Taylor, Peter J., Maroulis, Sarah, Mullan, Glenda L., Pedersen, Robyn L., Baumli, Aurora, Elakis, George, Piras, Sara, Walsh, Corrina, Prósper-Gutiérrez, Benito, De La Puente-Alonso, Fernando, Bell, Christopher G., Mowat, David R., Johnston, Heather M. and Buckley, Michael F.
(2007)
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
Journal of Medical Genetics, 44 (6), .
(doi:10.1136/jmg.2006.047464).
Abstract
There are significant clinical benefits to be gained from a combined mutation detection protocol for carrier detection. It is recommended that mutation-specific carrier frequencies for the different classes of dystrophin mutations should be taken into account in genetic counselling practice
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Published date: June 2007
Organisations:
Human Development & Health, Centre for Biological Sciences, MRC Life-Course Epidemiology Unit
Identifiers
Local EPrints ID: 400995
URI: http://eprints.soton.ac.uk/id/eprint/400995
ISSN: 0022-2593
PURE UUID: 0ff969cf-b99a-4603-84c9-2108b5460123
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Date deposited: 03 Oct 2016 10:53
Last modified: 15 Mar 2024 02:36
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Contributors
Author:
Peter J. Taylor
Author:
Sarah Maroulis
Author:
Glenda L. Mullan
Author:
Robyn L. Pedersen
Author:
Aurora Baumli
Author:
George Elakis
Author:
Sara Piras
Author:
Corrina Walsh
Author:
Benito Prósper-Gutiérrez
Author:
Fernando De La Puente-Alonso
Author:
Christopher G. Bell
Author:
David R. Mowat
Author:
Heather M. Johnston
Author:
Michael F. Buckley
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