Found: 9
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Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level.
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- Acta Neuropathologica, 1994, v. 87, n. 4, p. 371, doi. 10.1007/BF00313606
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- Article
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.
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- Human Mutation, 2006, v. 27, n. 6, p. 600, doi. 10.1002/humu.9426
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- Article
Transplacental injection of somite-derived cells in mdx mouse embryos for the correction of dystrophin deficiency.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1843, doi. 10.1093/hmg/9.12.1843
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- Article
Trans-acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles
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- FEBS Letters, 2003, v. 537, n. 1-3, p. 30, doi. 10.1016/S0014-5793(03)00066-8
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- Article
The dystrophin gene is alternatively spliced throughout its coding sequence
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- FEBS Letters, 2002, v. 517, n. 1-3, p. 163, doi. 10.1016/S0014-5793(02)02613-3
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- Article
Mutational analysis of the AGL gene: Five novel mutations in GSD III patients <FN ID="fn1">Communicated by William S. Sly</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #648 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/648.pdf</FN>
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- Human Mutation, 2003, v. 22, n. 4, p. 337, doi. 10.1002/humu.9177
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- Article
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.
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- Human Mutation, 2002, v. 20, n. 6, p. 480, doi. 10.1002/humu.9093
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- Article
Erratum: A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype.
- Published in:
- Human Mutation, 2001, v. 18, n. 6, p. 552, doi. 10.1002/humu.1244
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- Article
A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype.
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- Human Mutation, 2001, v. 17, n. 3, p. 239, doi. 10.1002/humu.18
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- Article