Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
- 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.
- Buckley, Michael F.
DOIAbstract
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 practic
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