Denaturing HPLC Coupled with Multiplex PCR for Rapid Detection of Large Deletions in Duchenne Muscular Dystrophy Carriers
Author:
Affiliation:
1. Institute of Biomedical Engineering, National Taiwan University, Taipei, Taiwan; Departments of
2. Medical Genetics,
3. Neurology,
4. Pediatrics, and
5. Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan
Publisher
Oxford University Press (OUP)
Subject
Biochemistry (medical),Clinical Biochemistry
Link
http://academic.oup.com/clinchem/article-pdf/51/7/1252/32683798/clinchem1252.pdf
Reference32 articles.
1. Emery AE. Population frequencies of inherited neuromuscular diseases–a world survey. Neuromuscul Disord1991;1:19-29.
2. Mukherjee M, Chaturvedi LS, Srivastava S, Mittal RD, Mittal B. De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases. Exp Mol Med2003;35:113-117.
3. Sinha S, Mishra S, Singh V, Mittal RD, Mittal B. High frequency of new mutations in North Indian Duchenne/Becker muscular dystrophy patients. Clin Genet1996;50:327-331.
4. Baumbach LL, Chamberlain JS, Ward PA, Farwell NJ, Caskey CT. Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies. Neurology1989;39:465-474.
5. Darras BT, Blattner P, Harper JF, Spiro AJ, Alter S, Francke U. Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations. Am J Hum Genet1988;43:620-629.
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