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Carrier detection in Duchenne muscular dystrophy using computed tomography

✍ Scribed by L. M. Stern; D. J. Caudrey; M. S. Clark; L. V. Perrett; D. W. Boldt

Book ID: 115089314
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 415 KB
Volume: 27
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1985.tb02281.x

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Dystrophin gene deletions account for up to 68% of all Duchenne (DMD) and Becker (BMD) muscular dystrophy mutations. In affected males, these deletions can be detected easily using multiplex PCR tests which monitor for exon presence. In addition, quantitative dosage screening can discriminate female