Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/5201916.pdf
Reference23 articles.
1. Lu QL, Mann CJ, Lou F et al: Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse. Nat Med 2003; 9: 1009–1014.
2. Welch EM, Barton ER, Zhuo J et al: PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007; 447: 87–91.
3. Abbs S, Bobrow M : Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene. J Med Genet 1992; 29: 191–196.
4. Van Essen AJ, Kneppers AL, van der Hout AH et al: The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol. J Med Genet 1997; 34: 805–812.
5. Worton RG, Thompson MW : Genetics of Duchenne muscular dystrophy. Annu Rev Genet 1988; 22: 601–629.
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