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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
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
0022-2593
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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Taylor, Peter J.
01694c3d-180d-41d2-80e0-c7d892e3f3f6
Maroulis, Sarah
cb1e7bba-ff06-4bb2-9558-c6a1b4256014
Mullan, Glenda L.
cc59d224-3d3d-4d05-aa63-67c3cb4061c9
Pedersen, Robyn L.
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Baumli, Aurora
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Elakis, George
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Piras, Sara
b904517b-db32-4d63-8756-cbdcc41008e2
Walsh, Corrina
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Prósper-Gutiérrez, Benito
b4f6770a-bf7f-4c01-869f-b986bfee7820
De La Puente-Alonso, Fernando
3c849e4c-1c82-4573-acbb-99f824630b8a
Bell, Christopher G.
44982df7-0746-4cdb-bed1-0bdfe68f1a64
Mowat, David R.
7a6c340c-2e46-4208-8118-d94345742e4d
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), 368-372. (doi:10.1136/jmg.2006.047464).

Record type: Article

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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More information

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
ORCID for Christopher G. Bell: ORCID iD orcid.org/0000-0003-4601-1242

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Date deposited: 03 Oct 2016 10:53
Last modified: 17 Dec 2019 01:33

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