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

doi:10.1002/humu.20976

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

Human mutation - 1 Jun 2009

Tuffery-Giraud Sylvie, Béroud Christophe, Leturcq France, Yaou Rabah Ben, Hamroun Dalil, Michel-Calemard Laurence, Moizard Marie-Pierre, Bernard Rafaëlle, Cossée Mireille, Boisseau Pierre, Blayau Martine, Creveaux Isabelle, Guiochon-Mantel Anne, de Martinville Bérengère, Philippe Christophe, Monnier Nicole, Bieth Eric, Khau Van Kien Philippe, Desmet François-Olivier, Humbertclaude Véronique, Kaplan Jean-Claude, Chelly Jamel, Claustres Mireille

Abstract excerpt

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...

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PMID: 19367636
DOI: 10.1002/humu.20976

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