Ontology highlight
ABSTRACT:
SUBMITTER: Grandval P
PROVIDER: S-EPMC3668602 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Grandval Philippe P Fabre Aurélie J AJ Gaildrat Pascaline P Baert-Desurmont Stéphanie S Buisine Marie-Pierre MP Ferrari Anthony A Wang Qing Q Béroud Christophe C Olschwang Sylviane S
Database : the journal of biological databases and curation 20130531
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 developed three locus-specific databases with the UMD software (www.umd.be/MLH1/, www.umd.be/MSH2/ and www.umd.be/MSH6/) that presently contain a total of 7047 sequence variations including 707 distinct ...[more]