Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy

BACKGROUND: Recent methodological advances have improved the detection rate for dystrophin mutations, but there are no published studies that have measured the clinical utility of these protocols for carrier detection compared with conventional carrier testing protocols that use pedigree, serum crea...

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Main Authors: 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
פורמט: Artigo
שפה:Inglês
יצא לאור: BMJ Group 2007
נושאים:
Original Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC2740880/
https://ncbi.nlm.nih.gov/pubmed/17259292
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.047464
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