Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.

@article{TufferyGiraud2009GenotypephenotypeAI,
  title={Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.},
  author={Sylvie Tuffery-Giraud and Christophe B{\'e}roud and France Leturcq and Rabah Ben Yaou and Dalil Hamroun and Laurence Michel-Calemard and Marie-Pierre Moizard and Rafa{\"e}lle Bernard and Mireille Coss{\'e}e and Pierre Boisseau and Martine Blayau and Isabelle Creveaux and Anne Guiochon-Mantel and B{\'e}reng{\`e}re de Martinville and Christophe Philippe and Nicole Monnier and {\'E}ric Bieth and Philippe Khau van Kien and F Desmet and V{\'e}ronique Humbertclaude and J H Kaplan and Jamel Chelly and Mireille Claustres},
  journal={Human mutation},
  year={2009},
  volume={30 6},
  pages={934-45}
}
UMD-DMD France is a knowledgebase developed through a multicenter academic effort to provide an up-to-date resource of curated information covering all identified mutations in patients with a dystrophinopathy. The current release includes 2,411 entries consisting in 2,084 independent mutational events identified in 2,046 male patients and 38 expressing females, which corresponds to an estimated number of 39 people per million with a genetic diagnosis of dystrophinopathy in France. Mutations… CONTINUE READING

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