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Article

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

Journal of medical genetics - 1 Jun 2007

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

Abstract excerpt

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 creatine kinase levels and linkage analysis. METHODS AND SUBJECTS: The clinical utility of a combined mutation detection...

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Identifiers

PMID: 17259292
DOI: 10.1136/jmg.2006.047464
PMCID: PMC2740880

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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