UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families

Lynch syndrome is an autosomal dominant disease caused by germ line heterozygous mutations mainly involving the MSH2, MLH1 and MSH6 genes that belong to the DNA MisMatch Repair (MMR) genes family. The French network counting the 16 licensed laboratories involved in Lynch syndrome genetic testing dev...

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Autores principales: Grandval, Philippe, Fabre, Aurélie J., Gaildrat, Pascaline, Baert-Desurmont, Stéphanie, Buisine, Marie-Pierre, Ferrari, Anthony, Wang, Qing, Béroud, Christophe, Olschwang, Sylviane
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2013
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Original Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3668602/
https://ncbi.nlm.nih.gov/pubmed/23729658
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/database/bat036
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